ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.187G>A (p.Glu63Lys)

gnomAD frequency: 0.00006  dbSNP: rs768419961
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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 RCV001230416 SCV001402894 uncertain significance Fanconi anemia 2019-08-14 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs768419961, ExAC 0.002%). This sequence change replaces glutamic acid with lysine at codon 63 of the FANCM protein (p.Glu63Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
GeneDx RCV001751449 SCV001995994 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 28069802)

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