ClinVar Miner

Submissions for variant NM_000348.4(SRD5A2):c.620C>T (p.Ala207Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785749 SCV005400746 uncertain significance 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.620C>T(p.Thr207Ile) in SRD5A2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.620C>T(p.Thr207Ile) variant is reported with 0.0004% allele frequency in gnomAD Exomes. It has been submitted to ClinVar as Pathogenic/Likely Pathogenic. However, no details are available for independent assessment. The variant is predicted to be damaging by SIFT. The amino acid Thr at position 207 is changed to a Ile changing protein sequence and it might alter its composition and physico-chemical properties. The reference amino acid p.Thr207Ile in SRD5A2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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