ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3281G>C (p.Ser1094Thr)

dbSNP: rs946572285
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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 RCV001206988 SCV001378323 uncertain significance Fanconi anemia 2021-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This sequence change replaces serine with threonine at codon 1094 of the FANCA protein (p.Ser1094Thr). The serine residue is weakly conserved and there is a small physicochemical difference between serine and threonine.

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