ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82864C>A (p.Pro27622Thr)

gnomAD frequency: 0.00008  dbSNP: rs769189431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184889 SCV000237635 uncertain significance not specified 2014-10-20 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 CARDIOMYOPATHY panel(s).
Ambry Genetics RCV002345660 SCV002653146 uncertain significance Cardiovascular phenotype 2020-01-17 criteria provided, single submitter clinical testing The p.P18557T variant (also known as c.55669C>A), located in coding exon 153 of the TTN gene, results from a C to A substitution at nucleotide position 55669. The proline at codon 18557 is replaced by threonine, 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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