ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9964C>T (p.Pro3322Ser)

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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 RCV004990998 SCV005520470 uncertain significance Cardiovascular phenotype 2024-11-08 criteria provided, single submitter clinical testing The c.9958C>T (p.P3320S) alteration is located in exon 29 (coding exon 28) of the TNXB gene. This alteration results from a C to T substitution at nucleotide position 9958, causing the proline (P) at amino acid position 3320 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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