ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)

dbSNP: rs2038476999
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221657 SCV001393716 uncertain significance Fanconi anemia 2019-07-08 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 been observed in individual(s) with Fanconi Anemia (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 1089 of the FANCA protein (p.Val1089Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine.
Leiden Open Variation Database RCV001256610 SCV001426105 pathogenic Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.
Natera, Inc. RCV001221657 SCV002092541 uncertain significance Fanconi anemia 2021-01-25 no assertion criteria provided clinical testing

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