ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1330G>A (p.Ala444Thr)

dbSNP: rs771047848
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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 RCV001370903 SCV001567449 uncertain significance Fanconi anemia 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 444 of the FANCA protein (p.Ala444Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. 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.

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