ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1924A>G (p.Ile642Val)

dbSNP: rs1555363268
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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 RCV000555141 SCV000626358 uncertain significance Fanconi anemia 2017-07-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 642 of the FANCM protein (p.Ile642Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant has not been reported in the literature in individuals with FANCM-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly 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.

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