ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.362C>T (p.Ala121Val)

dbSNP: rs899740775
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305900 SCV001495250 uncertain significance Fanconi anemia 2020-10-27 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 121 of the FANCM protein (p.Ala121Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Sema4, Sema4 RCV002256736 SCV002527355 uncertain significance Hereditary cancer-predisposing syndrome 2021-04-27 criteria provided, single submitter curation
GeneDx RCV002274184 SCV002559583 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002274184 SCV004218777 uncertain significance not provided 2023-04-11 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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