ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)

gnomAD frequency: 0.00002  dbSNP: rs777505893
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596246 SCV000703721 uncertain significance not provided 2016-12-04 criteria provided, single submitter clinical testing
Invitae RCV000642758 SCV000764445 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-05-31 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 18193 of the TTN protein (p.Asn18193Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs777505893, ExAC 0.003%). This variant has not been reported in the literature in individuals with TTN-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV002438535 SCV002747478 uncertain significance Cardiovascular phenotype 2019-04-09 criteria provided, single submitter clinical testing The p.N9128S variant (also known as c.27383A>G), located in coding exon 109 of the TTN gene, results from an A to G substitution at nucleotide position 27383. The asparagine at codon 9128 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species; however, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150292 SCV003838001 likely benign Cardiomyopathy 2022-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000596246 SCV004152382 uncertain significance not provided 2023-07-01 criteria provided, single submitter clinical testing TTN: PM2

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