ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9523A>T (p.Thr3175Ser)

gnomAD frequency: 0.00078  dbSNP: rs202109631
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587780 SCV001817431 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002370235 SCV002685461 likely benign Cardiovascular phenotype 2024-05-07 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.
Breakthrough Genomics, Breakthrough Genomics RCV001587780 SCV005188858 uncertain significance not provided criteria provided, single submitter not provided

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