ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94484G>A (p.Ser31495Asn)

gnomAD frequency: 0.00001  dbSNP: rs1329167679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763238 SCV001990611 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370285 SCV002667325 uncertain significance Cardiovascular phenotype 2018-12-17 criteria provided, single submitter clinical testing The p.S22430N variant (also known as c.67289G>A), located in coding exon 167 of the TTN gene, results from a G to A substitution at nucleotide position 67289. The serine at codon 22430 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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