ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.5247A>T (p.Gly1749=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Neurology, First People's Hospital of Wuhu RCV003584025 SCV004239104 pathogenic Autosomal dominant nonsyndromic hearing loss 56 2023-04-05 no assertion criteria provided clinical testing The family exhibited autosomal dominant, progressive, post-lingual, non-syndromic hearing loss. A novel synonymous variant (c.5247A>T, p.Gly1749Gly) in TNC was identified in all affect members. This synonymous variant is situated at the exon-intron junction boundary towards the end of exon 18. Notably, glycine residue at position 1749 is highly conserved across various species. Predictions from dbscSNV and Mutation Taster suggest that this mutation may disrupt normal splicing by affecting downstream splicing events.

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