ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln)

gnomAD frequency: 0.00003  dbSNP: rs781923569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171438 SCV000221636 likely benign not specified 2016-09-28 criteria provided, single submitter research
Invitae RCV001573566 SCV003286458 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 191248). This variant has not been reported in the literature in individuals affected with CACNA1F-related conditions. This variant is present in population databases (rs781923569, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 70 of the CACNA1F protein (p.Arg70Gln).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573566 SCV001799626 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573566 SCV001965111 uncertain significance not provided no assertion criteria provided clinical testing

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