ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.3429T>G (p.Val1143=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005101751 SCV005823079 uncertain significance not provided 2024-09-19 criteria provided, single submitter clinical testing This sequence change affects codon 1143 of the FOCAD mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FOCAD protein. This variant is present in population databases (rs769694000, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FOCAD-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
PreventionGenetics, part of Exact Sciences RCV003924071 SCV004737748 likely benign FOCAD-related disorder 2022-11-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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