ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.36G>T (p.Trp12Cys)

dbSNP: rs2139099472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822551 SCV002065326 uncertain significance not specified 2021-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869761 SCV002207897 uncertain significance Fanconi anemia 2021-06-06 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. 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 tryptophan with cysteine at codon 12 of the FANCM protein (p.Trp12Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine.

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