ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.101C>T (p.Ala34Val)

dbSNP: rs761952835
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001872339 SCV002119820 likely benign Aortic valve disease 2 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002361103 SCV002665970 uncertain significance Cardiovascular phenotype 2022-04-23 criteria provided, single submitter clinical testing The p.A34V variant (also known as c.101C>T), located in coding exon 1 of the TBX5 gene, results from a C to T substitution at nucleotide position 101. The alanine at codon 34 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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