ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2834C>T (p.Ala945Val)

dbSNP: rs1221107443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001887512 SCV002161394 uncertain significance Fanconi anemia 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 945 of the FANCA protein (p.Ala945Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV005016771 SCV005644440 uncertain significance Fanconi anemia complementation group A 2024-05-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV005343118 SCV006001858 uncertain significance Inborn genetic diseases 2025-02-04 criteria provided, single submitter clinical testing The p.A945V variant (also known as c.2834C>T), located in coding exon 29 of the FANCA gene, results from a C to T substitution at nucleotide position 2834. The alanine at codon 945 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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