ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.378G>A (p.Thr126=)

gnomAD frequency: 0.00205  dbSNP: rs113137300
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155385 SCV000205072 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Thr126Thr in Exon 02 of POU4F3: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.7% (28/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs113137300)."
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000727 SCV001157772 benign Autosomal dominant nonsyndromic hearing loss 15 2019-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000727 SCV001313431 benign Autosomal dominant nonsyndromic hearing loss 15 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001682873 SCV001902439 benign not provided 2018-09-12 criteria provided, single submitter clinical testing
Invitae RCV001682873 SCV002469148 benign not provided 2023-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001682873 SCV004157268 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing POU4F3: BP4, BP7

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