ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.625A>C (p.Lys209Gln)

dbSNP: rs1555358657
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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 RCV000630956 SCV000751932 uncertain significance Fanconi anemia 2017-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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"). This variant has not been reported in the literature in individuals with FANCM-related disease. This sequence change replaces lysine with glutamine at codon 209 of the FANCM protein (p.Lys209Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine.

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