ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.2239C>T (p.Arg747Trp)

gnomAD frequency: 0.00007  dbSNP: rs776411890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330891 SCV001522737 uncertain significance Autosomal dominant nonsyndromic hearing loss 56 2019-09-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546421 SCV003716144 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.2239C>T (p.R747W) alteration is located in exon 5 (coding exon 4) of the TNC gene. This alteration results from a C to T substitution at nucleotide position 2239, causing the arginine (R) at amino acid position 747 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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