ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003985997 SCV004801822 likely pathogenic Testosterone 17-beta-dehydrogenase deficiency criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Lys37AsnfsTer40 in the HSD17B3 gene. The variant was observed in presumably compound heterozygous state with a known pathogenic variant (phase not tested) in an individual affected with sex reversal. Homozygous and compound heterozygous variants are reported in patients with Pseudohermaphroditism, male, with gynecomastia, 264300. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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