ClinVar Miner

Submissions for variant NM_182746.3(MCM4):c.2537C>T (p.Ala846Val)

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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 RCV002633228 SCV003511888 uncertain significance not provided 2023-07-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2192623). This variant has not been reported in the literature in individuals affected with MCM4-related conditions. This variant is present in population databases (rs566436447, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 846 of the MCM4 protein (p.Ala846Val).

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