ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.682C>T (p.Gln228Ter)

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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 RCV003783737 SCV004571415 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln228*) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 72 amino acid(s) of the CRX protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant CRX-related conditions (PMID: 26667666). This variant disrupts a region of the CRX protein in which other variant(s) (p.Tyr258*) have been determined to be pathogenic (PMID: 22968130, 25270190). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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