ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)

dbSNP: rs1220495259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070445 SCV001235676 uncertain significance Fanconi anemia 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 912 of the FANCA protein (p.Thr912Pro). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and proline. This variant is not present in population databases (ExAC no frequency). 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 RCV002505658 SCV002814861 uncertain significance Fanconi anemia complementation group A 2022-04-29 criteria provided, single submitter clinical testing

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