Submissions for variant NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe)

gnomAD frequency: 0.00001  dbSNP: rs180798672

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001711352	SCV000237719	uncertain significance	not provided	2021-08-19	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000643086	SCV000764773	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-08-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362954	SCV002658268	uncertain significance	Cardiovascular phenotype	2019-12-02	criteria provided, single submitter	clinical testing	The p.L20832F variant (also known as c.62494C>T), located in coding exon 162 of the TTN gene, results from a C to T substitution at nucleotide position 62494. The leucine at codon 20832 is replaced by phenylalanine, an amino acid with highly similar 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.
Clinical Genetics, Academic Medical Center	RCV001711352	SCV002034355	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001711352	SCV002037010	uncertain significance	not provided		no assertion criteria provided	clinical testing