ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3297G>C (p.Gln1099His) (rs779268656)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470237 SCV000547754 uncertain significance Fanconi anemia 2019-01-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1099 of the FANCA protein (p.Gln1099His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs779268656, ExAC 0.1%). This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408181). This variant has been reported not to substantially affect FANCA protein function (PMID: 29098742). 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.

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