ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)

dbSNP: rs1433848980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816819 SCV000957345 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1096 of the FANCA protein (p.Gln1096His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with Fanconi anemia (PMID: 15643609). 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. 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.
GeneDx RCV003128728 SCV003805597 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing Reported in a proband with Fanconi anemia, but no other details were provided (Levran et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15643609)
Leiden Open Variation Database RCV001256612 SCV001426107 uncertain significance Fanconi anemia complementation group A 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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