ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.148G>T (p.Ala50Ser)

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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 RCV002389672 SCV002698971 uncertain significance Cardiovascular phenotype 2022-10-26 criteria provided, single submitter clinical testing The c.148G>T (p.A50S) alteration is located in exon 2 (coding exon 1) of the TNXB gene. This alteration results from a G to T substitution at nucleotide position 148, causing the alanine (A) at amino acid position 50 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002464662 SCV002758990 uncertain significance not provided 2022-12-05 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; This variant is associated with the following publications: (PMID: 27535533)

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