ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.685G>T (p.Val229Leu)

gnomAD frequency: 0.00004  dbSNP: rs572322789
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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 RCV001068777 SCV001233909 uncertain significance Fanconi anemia 2021-06-05 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 (rs572322789, ExAC 0.01%). This sequence change replaces valine with leucine at codon 229 of the FANCM protein (p.Val229Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine.
GeneDx RCV002298866 SCV002587975 uncertain significance not provided 2022-04-25 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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