ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.663C>A (p.Gly221=)

gnomAD frequency: 0.00511  dbSNP: rs61737151
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Total submissions: 5
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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 RCV000151676 SCV000199959 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Gly221Gly 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 1.5% (55/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs61737151)."
Labcorp Genetics (formerly Invitae), Labcorp RCV000974514 SCV001122340 benign not provided 2025-01-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000974514 SCV001145138 benign not provided 2019-03-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001153512 SCV001314805 benign Autosomal dominant nonsyndromic hearing loss 15 2018-01-13 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 RCV000974514 SCV001902455 benign not provided 2020-05-15 criteria provided, single submitter clinical testing

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