ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1930A>T (p.Asn644Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1293899212
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202366 SCV001373476 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 644 of the FANCA protein (p.Asn644Tyr). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. 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 tolerated. 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.
Sema4, Sema4 RCV001202366 SCV002534933 uncertain significance Fanconi anemia 2022-01-06 criteria provided, single submitter curation
Natera, Inc. RCV001202366 SCV002092660 uncertain significance Fanconi anemia 2020-08-19 no assertion criteria provided clinical testing

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