ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.539T>C (p.Ile180Thr)

dbSNP: rs2139106376
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981567 SCV002222557 uncertain significance Fanconi anemia 2021-06-13 criteria provided, single submitter clinical testing 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 isoleucine with threonine at codon 180 of the FANCM protein (p.Ile180Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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: "Benign"; 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.

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