ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.4308A>G (p.Ala1436=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005151158 SCV005776425 uncertain significance not provided 2024-03-29 criteria provided, single submitter clinical testing This sequence change affects codon 1436 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 (rs150050127, gnomAD 0.03%). 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.

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