ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.4812G>C (p.Leu1604=)

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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 RCV005101755 SCV005801123 uncertain significance not provided 2024-10-11 criteria provided, single submitter clinical testing This sequence change affects codon 1604 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 (rs776457730, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FOCAD-related conditions. 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 RCV003924223 SCV004742533 likely benign FOCAD-related disorder 2019-09-17 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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