ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val) (rs750773229)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229134 SCV000283565 uncertain significance Fanconi anemia 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 1254 of the FANCA protein (p.Glu1254Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs750773229, ExAC 0.003%). This variant has not been reported in the literature in individuals with FANCA-related disease. ClinVar contains an entry for this variant (Variation ID: 237051). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Counsyl RCV000671098 SCV000796043 uncertain significance Fanconi anemia, complementation group A 2017-11-28 criteria provided, single submitter clinical testing

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