ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.164T>C (p.Met55Thr)

dbSNP: rs1060502513
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462577 SCV000549946 uncertain significance Fanconi anemia 2016-12-19 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 55 of the FANCC protein (p.Met55Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCC-related disease.

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