ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.783C>G (p.Tyr261Ter)

dbSNP: rs2123743638
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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 RCV002013505 SCV002290188 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2021-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr261*) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the CRX protein. This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with CRX-related conditions.

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