ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu)

gnomAD frequency: 0.00019  dbSNP: rs373446383
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541228 SCV000642561 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 34897 of the TTN protein (p.Ser34897Leu). This variant is present in population databases (rs373446383, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 466732). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is located in the M band of TTN (PMID: 25589632). Non-truncating variants in this region may be relevant for neuromuscular disorders, but have not been definitively shown to cause cardiomyopathy (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Eurofins Ntd Llc (ga) RCV000593937 SCV000701147 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404464 SCV002674771 uncertain significance Cardiovascular phenotype 2018-09-27 criteria provided, single submitter clinical testing The p.S25832L variant (also known as c.77495C>T), located in coding exon 185 of the TTN gene, results from a C to T substitution at nucleotide position 77495. The serine at codon 25832 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 RCV000593937 SCV003822840 uncertain significance not provided 2019-07-08 criteria provided, single submitter clinical testing

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