ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV003314294 SCV004013504 uncertain significance Testosterone 17-beta-dehydrogenase deficiency criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.80; 3Cnet: 0.74). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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