Submissions for variant NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr)

gnomAD frequency: 0.00012  dbSNP: rs374631591

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041097	SCV000064788	uncertain significance	not specified	2021-03-30	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Ile3980Thr variant in TTN has not been previously reported in individuals with cardiomyopathy but has been identified in 0.02% (20/127992) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of this variant is uncertain, these data suggest that it is more likely to be benign. ACMG/AMP Criteria applied: BS1_Supporting, BP4.
GeneDx	RCV000725423	SCV000238178	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725423	SCV000336835	uncertain significance	not provided	2017-05-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770111	SCV000901537	likely benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing