ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.2818C>T (p.Pro940Ser)

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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 RCV004106959 SCV003581195 uncertain significance Cardiovascular phenotype 2021-09-15 criteria provided, single submitter clinical testing The c.2818C>T (p.P940S) alteration is located in exon 7 (coding exon 6) of the TNXB gene. This alteration results from a C to T substitution at nucleotide position 2818, causing the proline (P) at amino acid position 940 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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