Submissions for variant NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)

dbSNP: rs750520740

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000545897	SCV000643876	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-05-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620930	SCV000736681	uncertain significance	Cardiovascular phenotype	2019-02-05	criteria provided, single submitter	clinical testing	The p.L21086F variant (also known as c.63256C>T), located in coding exon 162 of the TTN gene, results from a C to T substitution at nucleotide position 63256, and is located in the A-band region of the N2-B isoform of the titin protein. The leucine at codon 21086 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not 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 variant remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769889	SCV000901315	uncertain significance	Cardiomyopathy	2017-09-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001778999	SCV002015081	uncertain significance	not specified	2021-10-02	criteria provided, single submitter	clinical testing