ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.3019G>A (p.Gly1007Arg)

dbSNP: rs1249437161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388117 SCV001588983 pathogenic not provided 2023-06-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects CACNA1F function (PMID: 17949918). 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 CACNA1F protein function. ClinVar contains an entry for this variant (Variation ID: 1074712). This variant is also known as c.3019G>A (p.Gly1007Arg). This missense change has been observed in individual(s) with congenital stationary night blindness (PMID: 12111638, 19578023, 23714322). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1018 of the CACNA1F protein (p.Gly1018Arg).
Genetics and Molecular Pathology, SA Pathology RCV002272468 SCV002556598 likely pathogenic Congenital stationary night blindness 2A 2022-01-21 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001388117 SCV001924796 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001388117 SCV001973615 pathogenic not provided no assertion criteria provided clinical testing

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