ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7984T>C (p.Tyr2662His)

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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 RCV004682431 SCV005178085 uncertain significance Cardiovascular phenotype 2024-06-11 criteria provided, single submitter clinical testing The p.Y2662H variant (also known as c.7984T>C), located in coding exon 22 of the TNXB gene, results from a T to C substitution at nucleotide position 7984. The tyrosine at codon 2662 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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