ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1454C>T (p.Ser485Phe)

dbSNP: rs760790832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001056358 SCV001220799 uncertain significance Fanconi anemia 2019-05-28 criteria provided, single submitter clinical testing 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 485 of the FANCA protein (p.Ser485Phe). The serine residue is weakly conserved and there is a large physicochemical difference between serine and phenylalanine.

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