ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter)

dbSNP: rs1660516364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052034 SCV001216224 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-03-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser379*) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: Invitae). Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473646 SCV004211195 likely pathogenic Leber congenital amaurosis 8 2023-05-17 criteria provided, single submitter clinical testing

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