ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2110A>G (p.Thr704Ala)

dbSNP: rs1888283068
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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 RCV001043568 SCV001207319 uncertain significance Fanconi anemia 2021-09-20 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 704 of the FANCM protein (p.Thr704Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine.

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