ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.898A>G (p.Ile300Val)

gnomAD frequency: 0.00001  dbSNP: rs749659002
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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 RCV001890350 SCV002147834 uncertain significance Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 300 of the FANCM protein (p.Ile300Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs749659002, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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