ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1047C>G (p.Gly349=)

gnomAD frequency: 0.00184  dbSNP: rs369785145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555808 SCV001777278 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002405239 SCV002705937 uncertain significance Cardiovascular phenotype 2022-06-30 criteria provided, single submitter clinical testing The c.1047C>G variant (also known as p.G349G), located in coding exon 2 of the TNXB gene, results from a C to G substitution at nucleotide position 1047. This nucleotide substitution does not change the glycine at codon 349. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV001555808 SCV005225642 likely benign not provided criteria provided, single submitter not provided

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