ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1405G>C (p.Val469Leu)

dbSNP: rs72557946
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001159298 SCV001320998 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811676 SCV001473547 uncertain significance not provided 2019-10-24 criteria provided, single submitter clinical testing The POR c.1414G>C; p.Val472Leu variant (rs72557946), to our knowledge, has not been reported in the medical literature or gene specific databases. This variant is found in the general population with an allele frequency in South Asian populations of 0.18% (40/22,222 alleles) in the Genome Aggregation Database. The valine at codon 472 is moderately conserved (Alamut v.2.11) and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, based on the available information, the clinical significance of this variant is uncertain.
Baylor Genetics RCV001159298 SCV001524994 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2019-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001159298 SCV002367315 likely benign Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2024-01-27 criteria provided, single submitter clinical testing
Mendelics RCV002249742 SCV002519202 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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