ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1841G>C (p.Ser614Thr)

dbSNP: rs1888024744
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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 RCV001351495 SCV001545973 uncertain significance Fanconi anemia 2020-07-26 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 614 of the FANCM protein (p.Ser614Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCM-related conditions. 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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