ClinVar Miner

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

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Total submissions: 3
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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
Natera, Inc. RCV001274161 SCV001457965 uncertain significance Fanconi anemia, group A 2020-09-16 no assertion criteria provided clinical testing

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