ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter)

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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 RCV003789290 SCV004574804 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CRB1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Tyr541*) 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).
Baylor Genetics RCV004573312 SCV005058541 likely pathogenic Leber congenital amaurosis 8 2024-03-27 criteria provided, single submitter clinical testing

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