ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2734A>G (p.Ile912Val)

gnomAD frequency: 0.00002  dbSNP: rs45568842
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000301587 SCV001412052 uncertain significance Fanconi anemia 2023-08-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs45568842, gnomAD 0.003%). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 313208). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 912 of the FANCM protein (p.Ile912Val).
GeneDx RCV003441837 SCV004170407 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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