ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.627G>C (p.Trp209Cys)

dbSNP: rs1018067067
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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 RCV000818673 SCV000959299 uncertain significance Fanconi anemia 2020-03-04 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with cysteine at codon 209 of the FANCA protein (p.Trp209Cys). The tryptophan residue is moderately conserved and there is a large physicochemical difference between tryptophan and cysteine.

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