ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu)

dbSNP: rs794729536
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184999 SCV000237784 uncertain significance not specified 2014-06-25 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV000227712 SCV000286922 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2015-12-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730581 SCV000858329 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362962 SCV002663340 uncertain significance Cardiovascular phenotype 2020-09-10 criteria provided, single submitter clinical testing The p.S22286L variant (also known as c.66857C>T), located in coding exon 166 of the TTN gene, results from a C to T substitution at nucleotide position 66857. The serine at codon 22286 is replaced by leucine, an amino acid with dissimilar 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 RCV000730581 SCV003823622 uncertain significance not provided 2019-12-29 criteria provided, single submitter clinical testing

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