ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) (rs80358221)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001039417 SCV001202947 pathogenic not provided 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 259 of the HSD3B2 protein (p.Thr259Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs80358221, ExAC 0.02%). This variant has been observed in individuals affected with clinical features of congenital adrenal hyperplasia (PMID: 10599696, 10770215, 10973654). ClinVar contains an entry for this variant (Variation ID: 12192). This variant has been reported to affect HSD3B2 protein function (PMID: 10599696, 11196452). This variant disrupts the p.Thr259 amino acid residue in HSD3B2. Other variant(s) that disrupt this residue have been observed in individuals with HSD3B2-related conditions (PMID: 7633460, 10599696), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012975 SCV000033220 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2000-04-01 no assertion criteria provided literature only

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