ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.660del (p.Tyr221fs)

dbSNP: rs864309707
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203269 SCV000256743 pathogenic Benign concentric annular macular dystrophy 2014-09-25 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002517362 SCV003333832 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-04-10 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 218922). This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr221Thrfs*9) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acid(s) of the CRX protein.

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