ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1404G>C (p.Lys468Asn)

gnomAD frequency: 0.00001  dbSNP: rs755713516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001318240 SCV001508933 uncertain significance Fanconi anemia 2020-10-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is present in population databases (rs755713516, ExAC 0.002%). This sequence change replaces lysine with asparagine at codon 468 of the FANCA protein (p.Lys468Asn). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and asparagine.
Natera, Inc. RCV001318240 SCV002095038 uncertain significance Fanconi anemia 2020-01-24 no assertion criteria provided clinical testing

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