Submissions for variant NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)

gnomAD frequency: 0.00001  dbSNP: rs727504723

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000156015	SCV000205727	uncertain significance	not specified	2013-09-06	criteria provided, single submitter	clinical testing	The Ile25234Val variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. Isoleucine (Ile) at position 25234 is co nserved in evolution; however, the variant amino acid (valine) is present in chi ckens suggesting the change may be tolerated. Other computational analyses (bioc hemical amino acid properties, AlignGVGD, PolyPhen2, and SIFT) do not provide st rong support for or against an impact to the protein. Additional information is needed to fully assess the clinical significance of the Ile25234Val variant.
Invitae	RCV000643375	SCV000765062	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-12-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002498762	SCV002812815	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-09-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000156015	SCV003801262	uncertain significance	not specified	2023-01-09	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001579558	SCV003821149	uncertain significance	not provided	2019-08-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579558	SCV001807674	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001579558	SCV001917372	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579558	SCV001969398	uncertain significance	not provided		no assertion criteria provided	clinical testing