ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7187C>G (p.Pro2396Arg)

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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 RCV003201834 SCV003880118 uncertain significance Cardiovascular phenotype 2023-04-18 criteria provided, single submitter clinical testing The c.7187C>G (p.P2396R) alteration is located in exon 21 (coding exon 20) of the TNXB gene. This alteration results from a C to G substitution at nucleotide position 7187, causing the proline (P) at amino acid position 2396 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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