ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2791A>G (p.Asn931Asp)

gnomAD frequency: 0.00001  dbSNP: rs142798313
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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 RCV001041636 SCV001205260 uncertain significance Fanconi anemia 2023-08-22 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 839796). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs142798313, gnomAD 0.002%). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 931 of the FANCM protein (p.Asn931Asp).
GeneDx RCV001772230 SCV001994356 uncertain significance not provided 2024-11-14 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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