ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.127C>A (p.Arg43Ser)

dbSNP: rs1437021651
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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 RCV001352222 SCV001546759 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-10-05 criteria provided, single submitter clinical testing This variant disrupts the p.Arg43 amino acid residue in CRX. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26992781, 30718709, 31626798, 32533067). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CRX protein function. ClinVar contains an entry for this variant (Variation ID: 1047499). 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 replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 43 of the CRX protein (p.Arg43Ser). 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.

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