ClinVar Miner

Submissions for variant NM_002160.4(TNC):c.965G>A (p.Arg322Gln)

gnomAD frequency: 0.00007  dbSNP: rs145315080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753154 SCV002007064 likely benign not provided 2021-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040729 SCV003696431 uncertain significance not specified 2024-02-05 criteria provided, single submitter clinical testing The c.965G>A (p.R322Q) alteration is located in exon 3 (coding exon 2) of the TNC gene. This alteration results from a G to A substitution at nucleotide position 965, causing the arginine (R) at amino acid position 322 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004756291 SCV005365453 likely benign TNC-related disorder 2024-04-16 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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