ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.784G>T (p.Glu262Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155862 SCV003845125 likely pathogenic Congenital adrenal hyperplasia 2023-02-22 criteria provided, single submitter clinical testing Variant summary: POR c.784G>T (p.Glu262X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been cited as pathogenic and disease-associated in ClinVar and HGMD. The variant was absent in 245960 control chromosomes. To our knowledge, no occurrence of c.784G>T in individuals affected with Congenital Adrenal Hyperplasia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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