ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.730+2T>C (rs398123096)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179697 SCV000231987 pathogenic not provided 2012-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193469 SCV001362326 likely pathogenic Deficiency of acetyl-CoA acetyltransferase 2019-04-22 criteria provided, single submitter clinical testing Variant summary: ACAT1 c.730+2T>C is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251236 control chromosomes (gnomAD). To our knowledge, no occurrence of c.730+2T>C in individuals affected with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. A clinical diagnostic laboratory (evaluation prior to 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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