ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.59C>T (p.Ser20Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lab of Hepatology and Endocrinology, Hunan Children's Hospital RCV004699756 SCV005200496 likely pathogenic HSD10 mitochondrial disease criteria provided, single submitter clinical testing In this genetic test, the HSD17B10 gene hemizygous variant c.59C>T(p.S20L) was detected, and the sequencing data showed that the proband's parents did not carry this variant, and this variant was de novo.The HSD17B10 gene c.59C>T(p.S20L) variant has not been reported in relevant clinical cases. So far, this variant has a low frequency in reference population gene database. The region where the variant is located is an important component of this protein, and the amino acid sequence is highly conserved across species. Computer-assisted analysis predicts a higher likelihood that this variant affects protein structure/function. Taken together with the clinical presentation of the subject and the family analysis, this variant was classified as ‘likely pathogenic’ according to the ACMG Variant Classification Guidelines (PMID: 25741868, 31690835).

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