ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)

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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 RCV002510561 SCV002818468 uncertain significance 3 beta-Hydroxysteroid dehydrogenase deficiency 2022-11-07 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 4 of the HSD3B2 gene that results in the amino acid substitution of Aspartic acid for Alanine at codon 204 was detected. The observed variant c.611C>A (p.Ala204Asp) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by PolyPhen-2 (HumDiv) and SIFT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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