ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44249A>G (p.Asn14750Ser)

gnomAD frequency: 0.00001  dbSNP: rs767633080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621978 SCV000737257 uncertain significance Cardiovascular phenotype 2017-05-09 criteria provided, single submitter clinical testing The p.N5685S variant (also known as c.17054A>G), located in coding exon 66 of the TTN gene, results from an A to G substitution at nucleotide position 17054. The asparagine at codon 5685 is replaced by serine, 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.
Clinical Genetics, Academic Medical Center RCV001700260 SCV001919007 uncertain significance not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001700260 SCV001963325 uncertain significance not provided no assertion criteria provided clinical testing

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