ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.58+190T>A

gnomAD frequency: 0.00006  dbSNP: rs1001866915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711977 SCV000842390 likely pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535763 SCV004114115 uncertain significance HSD17B4-related disorder 2023-11-22 criteria provided, single submitter clinical testing The HSD17B4 c.68+2T>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant is located in an alternate transcript. In the canonical transcript (NM_000414.3) this variant is intronic. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0041% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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