ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.5906C>T (p.Thr1969Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004199317 SCV003703735 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing The c.5906C>T (p.T1969I) alteration is located in exon 23 (coding exon 22) of the TNC gene. This alteration results from a C to T substitution at nucleotide position 5906, causing the threonine (T) at amino acid position 1969 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003900912 SCV004708560 likely benign TNC-related disorder 2023-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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