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
Invitae RCV001052034 SCV001216224 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2020-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: Invitae). This variant is not present in population databases (ExAC no frequency). 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.
Baylor Genetics RCV003473646 SCV004211195 likely pathogenic Leber congenital amaurosis 8 2023-05-17 criteria provided, single submitter clinical testing

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