ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1700C>G (p.Thr567Ser)

dbSNP: rs775083851
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058611 SCV001223195 uncertain significance Fanconi anemia 2019-03-16 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with serine at codon 567 of the FANCA protein (p.Thr567Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine.

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