Submissions for variant NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro)

gnomAD frequency: 0.00006  dbSNP: rs367838375

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704913	SCV000237404	likely benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000618511	SCV000737095	uncertain significance	Cardiovascular phenotype	2016-07-14	criteria provided, single submitter	clinical testing	The p.L12129P variant (also known as c.36386T>C), located in coding exon 133 of the TTN gene, results from a T to C substitution at nucleotide position 36386. This alteration is located in the A-band region of the N2-B isoform of the titin protein. The leucine at codon 12129 is replaced by proline, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs367838375. Based on data from ExAC, the C allele has an overall frequency of less than 0.01% (1/104172). Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/12122) total alleles studied and 0.01% (1/8250) European American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001704913	SCV004237366	uncertain significance	not provided	2023-05-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486750	SCV004240054	likely benign	Cardiomyopathy	2023-05-26	criteria provided, single submitter	clinical testing