ClinVar Miner

Submissions for variant NM_001375567.1(FOCAD):c.1288G>C (p.Ala430Pro)

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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 RCV005194900 SCV005833338 uncertain significance not provided 2024-05-21 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 430 of the FOCAD protein (p.Ala430Pro). This variant is present in population databases (rs367913356, gnomAD 0.006%). 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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