ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5631G>C (p.Lys1877Asn)

gnomAD frequency: 0.00002  dbSNP: rs761269508
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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 RCV001359712 SCV001555592 uncertain significance Fanconi anemia 2020-04-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCM-related conditions. 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 is present in population databases (rs761269508, ExAC 0.009%). This sequence change replaces lysine with asparagine at codon 1877 of the FANCM protein (p.Lys1877Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478795 SCV004218827 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing The variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00014 (5/34592 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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