ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9617A>G (p.Gln3206Arg)

gnomAD frequency: 0.00035  dbSNP: rs201902411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658797 SCV001873909 uncertain significance not provided 2025-04-08 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
Revvity Omics, Revvity RCV003136120 SCV003827776 uncertain significance Vesicoureteral reflux 8 2021-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161157 SCV003880129 likely benign Cardiovascular phenotype 2024-06-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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