ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3819T>A (p.Asn1273Lys)

dbSNP: rs2139251440
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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 RCV001901726 SCV002176226 uncertain significance Fanconi anemia 2021-09-29 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1273 of the FANCM protein (p.Asn1273Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FANCM-related conditions.
GeneDx RCV003327535 SCV004034905 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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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