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
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.
Counsyl	RCV000674097	SCV000799372	uncertain significance	Fanconi anemia, complementation group A	2018-04-17	criteria provided, single submitter	clinical testing

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