ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.352A>G (p.Thr118Ala)

gnomAD frequency: 0.00002  dbSNP: rs1227473930
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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 RCV000535465 SCV000626368 uncertain significance Fanconi anemia 2020-09-01 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCM-related disease. This sequence change replaces threonine with alanine at codon 118 of the FANCM protein (p.Thr118Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237890 SCV002011485 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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