ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs)

dbSNP: rs1665063400
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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 RCV001203809 SCV001374986 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1049Aspfs*40) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CRB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 935258). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570429 SCV005058558 likely pathogenic Leber congenital amaurosis 8 2024-01-08 criteria provided, single submitter clinical testing

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