ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.95G>C (p.Arg32Thr)

dbSNP: rs770984577
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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 RCV000534176 SCV000626225 uncertain significance Fanconi anemia 2021-01-29 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant is present in population databases (rs770984577, ExAC 0.002%) but has not been reported in the literature in individuals with a FANCA-related disease. This sequence change replaces arginine with threonine at codon 32 of the FANCA protein (p.Arg32Thr). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and threonine.
Natera, Inc. RCV000534176 SCV002090797 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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