ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)

gnomAD frequency: 0.00003  dbSNP: rs762214300
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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, Mass General Brigham Personalized Medicine RCV000217972 SCV000272681 uncertain significance not specified 2015-06-11 criteria provided, single submitter clinical testing The p.Asn14962Ser variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 11/62924 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y not impact the protein, though this information is not predictive enough to ru le out pathogenicity. In summary, the clinical significance of the p.Asn14962Ser variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000470373 SCV000542550 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429075 SCV002740569 uncertain significance Cardiovascular phenotype 2019-05-06 criteria provided, single submitter clinical testing The p.N8465S variant (also known as c.25394A>G), located in coding exon 102 of the TTN gene, results from an A to G substitution at nucleotide position 25394. The asparagine at codon 8465 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly 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.
CeGaT Center for Human Genetics Tuebingen RCV003437013 SCV004152389 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing TTN: PM2, BP4

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