ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.975C>T (p.Ala325=)

gnomAD frequency: 0.00136  dbSNP: rs72557941
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757683 SCV000886002 likely benign not provided 2017-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088455 SCV001091670 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2025-01-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001088455 SCV001322364 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000757683 SCV001813600 uncertain significance not provided 2025-04-07 criteria provided, single submitter clinical testing In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 25712184, 14688830, 33666875)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407940 SCV006073873 benign not specified 2025-04-28 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000757683 SCV001956425 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000757683 SCV001966410 likely benign not provided no assertion criteria provided clinical testing

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