ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile)

dbSNP: rs759318152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548299 SCV000631428 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2021-02-19 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of SRD5A2-related conditions (PMID: 31186340, 30968598, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 459641). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SRD5A2 protein function. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with isoleucine at codon 208 of the SRD5A2 protein (p.Thr208Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
MGZ Medical Genetics Center RCV000548299 SCV002579908 likely pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2021-08-18 criteria provided, single submitter clinical testing

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