ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97578C>G (p.Asp32526Glu)

dbSNP: rs142907833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246207 SCV000318191 uncertain significance Cardiovascular phenotype 2019-04-16 criteria provided, single submitter clinical testing The p.D29958E variant (also known as c.89874C>G), located in coding exon 298 of the TTN gene, results from a C to G substitution at nucleotide position 89874. The aspartic acid at codon 29958 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be possibly damaging and unknown by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170751 SCV001333356 uncertain significance Cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing

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