ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)

dbSNP: rs62645754
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001857423 SCV002219537 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRB1 protein function. ClinVar contains an entry for this variant (Variation ID: 99866). This missense change has been observed in individuals with Leber congenital amaurosis and retinitis pigmentosa (PMID: 11231775, 23449718, 25356976). This variant is present in population databases (rs62645754, gnomAD 0.003%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 383 of the CRB1 protein (p.Cys383Tyr).
Fulgent Genetics, Fulgent Genetics RCV002498468 SCV002814172 likely pathogenic Pigmented paravenous retinochoroidal atrophy; Retinitis pigmentosa 12; Leber congenital amaurosis 8 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001250593 SCV004178900 likely pathogenic Leber congenital amaurosis 8 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453011 SCV004178901 likely pathogenic Pigmented paravenous retinochoroidal atrophy 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453010 SCV004178902 likely pathogenic Retinitis pigmentosa 12 2023-04-11 criteria provided, single submitter clinical testing
Retina International RCV000086304 SCV000118450 not provided not provided no assertion provided not provided
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002989 SCV001161043 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250593 SCV001425461 pathogenic Leber congenital amaurosis 8 no assertion criteria provided research

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