ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.1156G>A (p.Gly386Arg)

gnomAD frequency: 0.00007  dbSNP: rs782315613
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241671 SCV001414703 uncertain significance not provided 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 386 of the CACNA1F protein (p.Gly386Arg). This variant is present in population databases (rs782315613, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. ClinVar contains an entry for this variant (Variation ID: 966887). 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 not expected to disrupt CACNA1F protein function with a negative predictive value of 80%. 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.
Clinical Genetics, Academic Medical Center RCV001241671 SCV001923781 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001241671 SCV001955251 likely benign not provided no assertion criteria provided clinical testing

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