ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.700A>G (p.Met234Val)

gnomAD frequency: 0.00001  dbSNP: rs1042676101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811308 SCV000951568 uncertain significance Fanconi anemia 2021-09-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 234 of the FANCA protein (p.Met234Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-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.
Fulgent Genetics, Fulgent Genetics RCV002495124 SCV002776355 uncertain significance Fanconi anemia complementation group A 2022-04-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV000811308 SCV002090741 uncertain significance Fanconi anemia 2021-04-21 no assertion criteria provided clinical testing

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