ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050638 SCV001214757 uncertain significance Fanconi anemia 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 146 of the FANCA protein (p.Ser146Cys). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs141367100, ExAC 0.1%). This variant has not been reported in the literature in individuals 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.

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