ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486112 SCV004235532 uncertain significance HSD10 mitochondrial disease 2023-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738480 SCV004552142 uncertain significance not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 108 of the HSD17B10 protein (p.Thr108Ile). This variant is present in population databases (rs782143488, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with HSD17B10-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003988124 SCV004803392 uncertain significance not specified 2024-01-15 criteria provided, single submitter clinical testing Variant summary: HSD17B10 c.323C>T (p.Thr108Ile) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 9.1e-06 in 1093225 control chromosomes (gnomAD v4 dataset), including 4 hemizygotes. The presence of the variant in multiple hemizygotes suggests that it is likely not associated with disease. To our knowledge, no occurrence of c.323C>T in individuals affected with 2-Methyl-3-Hydroxybutyric Aciduria and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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