ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1133G>A (p.Gly378Glu)

dbSNP: rs1060501894
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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 RCV000474819 SCV000547803 uncertain significance Fanconi anemia 2016-11-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCM-related disease. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine with glutamic acid at codon 378 of the FANCM protein (p.Gly378Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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