1:197298095-197298095 T > C

Classification

Category 3 curation
CMH MAF 22 / 13144 samples (0.167%)
22 het., 0 hom. (100%)
22 / 26288 total alleles (0.0837%)

gene: CRB1 synonym(s): LCA8, RP12, CRB1, ENSG00000134376

OMIM
OMIM:604210: CRB1 (Autosomal recessive inheritance)
OMIM:613835: Leber congenital amaurosis 8
OMIM:172870: Pigmented paravenous chorioretinal atrophy
OMIM:600105: Retinitis pigmentosa-12

ENST00000367400.3 [CDS]
hgvs_c: ENST00000367400.3:c.614T>C
reference AA: I
variant AA: T
reference codon: aTa
variant codon: aCa
cDNA pos: 749
CDS pos: 614
translation impact: non_synonymous
protein sequence: ENSP00000356370.3
AA pos: 205
hgvs_p: ENSP00000356370.3:p.Ile205Thr
blosum: -1
SIFT: tolerated (0.08)
PolyPhen2: probably_damaging (0.994)

rs62645749
GMAF = 0.000599
TOPMED_MAF = 0.00049375637104994

99914
clinvar_significance = Likely_benign
clinvar_disease = Retinitis pigmentosa
clinvar_disease = Leber congenital amaurosis
clinvar_disease = Pigmented paravenous chorioretinal atrophy
clinvar_disease = Retinitis Pigmentosa

EVS
EVS MAF (European American/African American/All) = 0.000581,0.000000,0.000384

ExAC America/Latino, (18 / 11528), 0.156%
gnomAD America/Latino, (81 / 35432), 0.229% curated_classification = 3