ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.660A>C (p.Gln220His)

dbSNP: rs1602426334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001789613 SCV002029251 uncertain significance HSD10 mitochondrial disease 2021-07-12 criteria provided, single submitter research A hemizygous missense variation in exon 6 of the HSD17B10 gene that results in the amino acid substitution of Histidine for Glutamine at codon 220 was detected. The observed variant c.660A>C (p.Gln220His) has not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant are damaging by LRT and MutationTaster2. The reference codon is conserved across species. Segregation analysis showed the variant to be of maternal origin. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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