ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)

gnomAD frequency: 0.00016  dbSNP: rs375198596
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040732 SCV000064423 uncertain significance not specified 2012-02-07 criteria provided, single submitter clinical testing The Ser26555Arg variant (TTN) has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) do not provide strong support f or or against an impact to the protein. Additional information is needed to full y assess the clinical significance of the Ser26555Arg variant.
GeneDx RCV000725253 SCV000237678 likely benign not provided 2019-05-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30453078)
Eurofins Ntd Llc (ga) RCV000725253 SCV000335336 uncertain significance not provided 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV000643680 SCV000765367 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000725253 SCV001714624 uncertain significance not provided 2020-01-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798188 SCV002043030 uncertain significance Cardiomyopathy 2021-04-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354213 SCV002656615 uncertain significance Cardiovascular phenotype 2019-09-24 criteria provided, single submitter clinical testing The p.S20058R variant (also known as c.60172A>C), located in coding exon 155 of the TTN gene, results from an A to C substitution at nucleotide position 60172. The serine at codon 20058 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well 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 RCV000725253 SCV003821787 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing

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