ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter)

dbSNP: rs1664341626
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208214 SCV001379591 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 938912). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 17964524). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp650*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).

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