Submissions for variant NM_000135.4(FANCA):c.964C>T (p.His322Tyr) (rs772768595)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000548806	SCV000626226	uncertain significance	Fanconi anemia	2017-07-27	criteria provided, single submitter	clinical testing	This sequence change replaces histidine with tyrosine at codon 322 of the FANCA protein (p.His322Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant is present in population databases (rs772768595, ExAC 0.04%). This variant has not been reported in the literature in individuals with FANCA-related disease. 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 C0"). 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	RCV000674060	SCV000799333	uncertain significance	Fanconi anemia, complementation group A	2018-04-13	criteria provided, single submitter	clinical testing

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