ClinVar Miner

Submissions for variant NM_000197.1(HSD17B3):c.194C>T

gnomAD frequency: 0.00001  dbSNP: rs747329682
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004555548 SCV005044815 likely pathogenic Testosterone 17-beta-dehydrogenase deficiency criteria provided, single submitter clinical testing The missense c.194C>T p.Ser65Leu variant in HSD17B3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser65Leu variant has allele frequency 0.001% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid change p.Ser65Leu in HSD17B3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ser at position 65 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.

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