ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.90C>T (p.Ala30=)

gnomAD frequency: 0.02948  dbSNP: rs28994879
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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 RCV000037585 SCV000061243 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala30Ala in Exon 01 of POU4F3: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 4.1% (291/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs28994879)."
PreventionGenetics, part of Exact Sciences RCV000037585 SCV000309152 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378277 SCV000453470 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 RCV000037585 SCV000717844 benign not specified 2017-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000992678 SCV001145139 benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Invitae RCV000992678 SCV002322497 benign not provided 2024-01-26 criteria provided, single submitter clinical testing

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