ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1768-1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155657 SCV003844413 likely pathogenic Bifunctional peroxisomal enzyme deficiency 2023-02-07 criteria provided, single submitter clinical testing Variant summary: HSD17B4 c.1768-1G>A 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 the canonical 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250100 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1768-1G>A in individuals affected with D-Bifunctional Protein Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV003155657 SCV004192394 pathogenic Bifunctional peroxisomal enzyme deficiency 2023-08-02 criteria provided, single submitter clinical testing

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