ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)

dbSNP: rs917707717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801853 SCV000941651 uncertain significance Fanconi anemia 2022-08-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 647356). 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. 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"). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 769 of the FANCA protein (p.Leu769Phe).
Fulgent Genetics, Fulgent Genetics RCV002495077 SCV002780619 uncertain significance Fanconi anemia complementation group A 2021-09-17 criteria provided, single submitter clinical testing

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