Submissions for variant NM_001267550.2(TTN):c.74112T>C (p.Ser24704=)

gnomAD frequency: 0.00003  dbSNP: rs397517697

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000040595	SCV000064286	likely benign	not specified	2011-11-14	criteria provided, single submitter	clinical testing	Ser22136Ser in exon 275 of TTN: This variant does not change an amino acid and d oes not affect the splice consensus sequence. This makes a disease causing role very unlikely. Ser22136Ser in exon 275 of TTN (allele frequency = n/a)
Ambry Genetics	RCV000618125	SCV000735589	likely benign	Cardiovascular phenotype	2016-11-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001408700	SCV001610705	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV004566809	SCV005050494	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7