ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.2947G>A (p.Ala983Thr)

gnomAD frequency: 0.00037  dbSNP: rs138850364
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545835 SCV001765243 uncertain significance not provided 2024-06-27 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
Ambry Genetics RCV002440783 SCV002752489 likely benign Cardiovascular phenotype 2024-07-29 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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