ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)

gnomAD frequency: 0.00006  dbSNP: rs782261248
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001782675 SCV002024730 likely pathogenic not provided 2019-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541209 SCV003250911 pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln609*) in the POR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POR are known to be pathogenic (PMID: 14758361, 20732302, 21741353). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324955). This premature translational stop signal has been observed in individual(s) with clinical features of cytochrome P450 oxidoreductase deficiency (PMID: 32242900). This variant is present in population databases (rs782261248, gnomAD 0.003%).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003136154 SCV003806734 pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2023-01-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated, PP1 supporting
GeneDx RCV001782675 SCV003842544 pathogenic not provided 2023-03-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29754767, 32242900)
Fulgent Genetics, Fulgent Genetics RCV005040379 SCV005667479 likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-01-15 criteria provided, single submitter clinical testing

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