ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3544C>T (p.Pro1182Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004990995 SCV005520467 uncertain significance Cardiovascular phenotype 2024-10-07 criteria provided, single submitter clinical testing The c.3544C>T (p.P1182S) alteration is located in exon 9 (coding exon 8) of the TNXB gene. This alteration results from a C to T substitution at nucleotide position 3544, causing the proline (P) at amino acid position 1182 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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