ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1525_1532del (p.Pro509fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV004006228 SCV004814109 likely pathogenic Autosomal recessive nonsyndromic hearing loss 79 2024-04-12 criteria provided, single submitter clinical testing A homozygous 9 base pair del in exon 1 of the TPRN gene that results in a frameshift and premature truncation of the protein 24 amino acids downstream to codon 509 (p.Pro509SerfsTer24) was detected.This variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1), topmed and our internal databases. The in-silico prediction of the variant is damaging by Mutation Taster2. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as likely pathogenic.

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