ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.5071C>T (p.Arg1691Cys)

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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 RCV002351453 SCV002645950 uncertain significance Cardiovascular phenotype 2022-07-14 criteria provided, single submitter clinical testing The c.5071C>T (p.R1691C) alteration is located in exon 14 (coding exon 13) of the TNXB gene. This alteration results from a C to T substitution at nucleotide position 5071, causing the arginine (R) at amino acid position 1691 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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