ClinVar Miner

Submissions for variant NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) (rs80358219)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233258 SCV001405844 pathogenic not provided 2019-09-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 142 of the HSD3B2 protein (p.Glu142Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with congenital adrenal hyperplasia (PMID: 8316254, 27796263, 12050213). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 12190). This variant has been reported to affect HSD3B2 protein function (PMID: 8316254, 11196452). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000012973 SCV000033218 pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency 2002-06-01 no assertion criteria provided literature only

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