ClinVar Miner

Submissions for variant NM_002700.3(POU4F3):c.442C>T (p.His148Tyr)

gnomAD frequency: 0.00001  dbSNP: rs761965263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000328484 SCV000453472 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.
GeneDx RCV001821076 SCV002064145 uncertain significance not provided 2022-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002520329 SCV003597593 uncertain significance Inborn genetic diseases 2022-01-05 criteria provided, single submitter clinical testing The c.442C>T (p.H148Y) alteration is located in exon 2 (coding exon 2) of the POU4F3 gene. This alteration results from a C to T substitution at nucleotide position 442, causing the histidine (H) at amino acid position 148 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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