ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.506A>T (p.Glu169Val)

dbSNP: rs1403377153
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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 RCV002023979 SCV002315666 uncertain significance Fanconi anemia 2021-03-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 169 of the FANCA protein (p.Glu169Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine.

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