ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.826+2T>G

dbSNP: rs2077590197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001196560 SCV007530125 pathogenic Deficiency of acetyl-CoA acetyltransferase 2024-04-17 criteria provided, single submitter clinical testing The c.826+2T>G variant in ACAT1 is a canonical splice donor site variant predicted to affect pre-mRNA splicing, which may result in an abnormal transcript and altered protein product. This variant is expected to result in nonsense mediated decay, truncation, or a dysfunctional protein product. This variant is rare in the general population with a frequency below the threshold expected for the associated phenotype(s). Another variant at this same site results in an alteration predicted to cause a similar molecular effect has been observed in individual(s) with the associated phenotype. Given the available evidence, this variant is classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196560 SCV001367168 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2018-10-05 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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