ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7541C>G (p.Thr2514Arg)

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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 RCV004996644 SCV005520456 uncertain significance Cardiovascular phenotype 2024-08-04 criteria provided, single submitter clinical testing The c.7541C>G (p.T2514R) alteration is located in exon 22 (coding exon 21) of the TNXB gene. This alteration results from a C to G substitution at nucleotide position 7541, causing the threonine (T) at amino acid position 2514 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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