ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5917C>T (p.Leu1973Phe)

gnomAD frequency: 0.00001  dbSNP: rs1890214915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041145 SCV001204745 uncertain significance Fanconi anemia 2019-12-31 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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 not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 1973 of the FANCM protein (p.Leu1973Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine.
GeneDx RCV001772228 SCV002003280 uncertain significance not provided 2020-09-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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