ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.159del (p.Glu53fs)

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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 RCV003781419 SCV004573397 pathogenic Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-12-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CRX protein in which other variant(s) (p.Gln256*) have been determined to be pathogenic (PMID: 26682157, 28945142; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with autosomal dominant retinal dystrophy (PMID: 29555955). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu53Aspfs*22) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 247 amino acid(s) of the CRX protein.

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