ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5197C>G (p.Gln1733Glu)

dbSNP: rs374587255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064009 SCV001228881 uncertain significance Fanconi anemia 2019-05-23 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs374587255, ExAC 0.009%). This sequence change replaces glutamine with glutamic acid at codon 1733 of the FANCM protein (p.Gln1733Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid.
GeneDx RCV001772289 SCV002001226 uncertain significance not provided 2020-12-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); 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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