ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.752C>T (p.Ser251Leu) (rs878853666)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674097 SCV000799372 uncertain significance Fanconi anemia, complementation group A 2018-04-17 criteria provided, single submitter clinical testing
Invitae RCV000227167 SCV000283573 uncertain significance Fanconi anemia 2015-11-19 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 251 of the FANCA protein (p.Ser251Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). However, the leucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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