ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.661_*3038del (p.Tyr221fs)

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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 RCV001208512 SCV001379905 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2019-09-07 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the CRX gene (p.Tyr221Serfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 79 amino acids of the CRX protein. This variant has not been reported in the literature in individuals with CRX-related conditions. This variant disrupts the region of the CRX protein between p.Arg41 and p.Gln256. This region has been determined to be associated with autosomal dominant CRX-related conditions (PMID: 9427255, 26682157), which suggests that variants that occur in this region are likely to be clinically significant. For these reasons, this variant has been classified as Pathogenic.

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