ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87730C>T (p.Pro29244Ser)

dbSNP: rs779810701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184925 SCV000237686 uncertain significance not specified 2013-08-12 criteria provided, single submitter clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).
Ambry Genetics RCV002354513 SCV002654618 uncertain significance Cardiovascular phenotype 2018-08-23 criteria provided, single submitter clinical testing The p.P20179S variant (also known as c.60535C>T), located in coding exon 156 of the TTN gene, results from a C to T substitution at nucleotide position 60535. The proline at codon 20179 is replaced by serine, an amino acid with 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.
Revvity Omics, Revvity RCV003137739 SCV003819183 uncertain significance not provided 2020-03-02 criteria provided, single submitter clinical testing

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