Submissions for variant NM_001267550.2(TTN):c.11692T>G (p.Tyr3898Asp)

dbSNP: rs1553941743

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000622248	SCV000737237	uncertain significance	Cardiovascular phenotype	2017-03-03	criteria provided, single submitter	clinical testing	The p.Y3535D variant (also known as c.10603T>G), located in coding exon 44 of the TTN gene, results from a T to G substitution at nucleotide position 10603. The tyrosine at codon 3535 is replaced by aspartic acid, an amino acid with highly dissimilar 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 alteration remains unclear.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486899	SCV004239816	likely benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
GeneDx	RCV004820065	SCV005441451	uncertain significance	not provided	2024-06-28	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); 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