Submissions for variant NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)

gnomAD frequency: 0.00019  dbSNP: rs368820294

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725115	SCV000334198	uncertain significance	not provided	2015-08-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000539986	SCV000643326	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000365473	SCV000710955	uncertain significance	not specified	2017-01-31	criteria provided, single submitter	clinical testing	The p.Gln15041Leu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been reported in ClinVar (Variation ID 282638). It has also been identified in 25/126196 European chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs368820294). Co mputational prediction tools and conservation analysis suggest that the variant may impact the protein, though this information is not predictive enough to dete rmine pathogenicity. In summary, the clinical significance of the p.Gln15041Leu variant is uncertain.
GeneDx	RCV000725115	SCV001823829	likely benign	not provided	2020-07-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429216	SCV002741665	uncertain significance	Cardiovascular phenotype	2019-08-14	criteria provided, single submitter	clinical testing	The p.Q8544L variant (also known as c.25631A>T), located in coding exon 103 of the TTN gene, results from an A to T substitution at nucleotide position 25631. The glutamine at codon 8544 is replaced by leucine, 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.
Athena Diagnostics	RCV000725115	SCV002770543	uncertain significance	not provided	2021-07-26	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000725115	SCV003827892	uncertain significance	not provided	2023-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005025420	SCV005655251	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2024-04-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725115	SCV001927249	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000725115	SCV001951577	uncertain significance	not provided		no assertion criteria provided	clinical testing