ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)

gnomAD frequency: 0.00001  dbSNP: rs772498581
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002453678 SCV002613070 uncertain significance Cardiovascular phenotype 2020-06-23 criteria provided, single submitter clinical testing The p.P11704Q variant (also known as c.35111C>A), located in coding exon 131 of the TTN gene, results from a C to A substitution at nucleotide position 35111. The proline at codon 11704 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003147389 SCV003835204 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2022-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147386 SCV003835505 uncertain significance Tibial muscular dystrophy 2022-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147387 SCV003835701 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2J 2022-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147384 SCV003835702 uncertain significance Hypertrophic cardiomyopathy 9 2022-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147388 SCV003835802 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2022-10-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147385 SCV003835856 uncertain significance Dilated cardiomyopathy 1G 2022-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000184690 SCV000237385 not provided not provided 2013-11-18 no assertion provided 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-CRDM panel(s).

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