ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) (rs727503564)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152222 SCV000201009 likely benign not specified 2014-06-05 criteria provided, single submitter clinical testing Gly21302Ser in exon 275 of TTN: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, dolphin, killer whale, white rhinoceros, manatee, and several bird specie h ave a serine (Ser) at this position despite high nearby amino acid conservation.
Ambry Genetics RCV000617839 SCV000736794 uncertain significance Cardiovascular phenotype 2020-09-16 criteria provided, single submitter clinical testing The p.G14805S variant (also known as c.44413G>A), located in coding exon 153 of the TTN gene, results from a G to A substitution at nucleotide position 44413. The glycine at codon 14805 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.
Invitae RCV000643884 SCV000765571 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-17 criteria provided, single submitter clinical testing
GeneDx RCV000184785 SCV000237496 not provided not provided 2014-04-04 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,CARDIOMYOPATHY panel(s).

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