ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.959T>C (p.Val320Ala)

gnomAD frequency: 0.00001  dbSNP: rs1184689716
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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 RCV001982142 SCV002212295 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 320 of the ACAT1 protein (p.Val320Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ACAT1-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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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