ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)

gnomAD frequency: 0.00001  dbSNP: rs776682683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630895 SCV000751868 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 645 of the FANCA protein (p.Ser645Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs776682683, ExAC 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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.
Fulgent Genetics, Fulgent Genetics RCV002492947 SCV002781655 uncertain significance Fanconi anemia complementation group A 2022-04-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000630895 SCV002092657 uncertain significance Fanconi anemia 2020-12-02 no assertion criteria provided clinical testing

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