ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.171C>G (p.Ala57=)

gnomAD frequency: 0.00001  dbSNP: rs781289197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756562 SCV000884407 likely benign not provided 2018-04-18 criteria provided, single submitter clinical testing The c.171C>G; p.Ala57Ala variant (rs781289197) does not alter the amino acid sequence of the POU4F3 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with hearing loss in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.0008% (identified on 2 out of 246,230 chromosomes). Based on the available information, the c.171C>G variant is likely to be benign.
Illumina Laboratory Services, Illumina RCV001157711 SCV001319309 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000756562 SCV004629631 likely benign not provided 2023-11-12 criteria provided, single submitter clinical testing

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