ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1264C>T (p.Arg422Cys)

gnomAD frequency: 0.00001  dbSNP: rs150574630
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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 RCV001215944 SCV001387713 uncertain significance Fanconi anemia 2022-10-05 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 945326). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs150574630, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 422 of the FANCM protein (p.Arg422Cys).
GeneDx RCV004783919 SCV005396994 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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