ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)

dbSNP: rs878853662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233473 SCV000283552 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 865 of the FANCA protein (p.Ile865Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine 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. ClinVar contains an entry for this variant (Variation ID: 237040). 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.
Counsyl RCV000672516 SCV000797627 uncertain significance Fanconi anemia complementation group A 2018-02-02 criteria provided, single submitter clinical testing

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