Submissions for variant NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys)

gnomAD frequency: 0.00001  dbSNP: rs943777958

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000835252	SCV000977039	likely benign	not provided	2019-07-11	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174731	SCV001338016	uncertain significance	not specified	2020-01-06	criteria provided, single submitter	clinical testing	Variant summary: TTN c.94024G>A (p.Glu31342Lys) results in a conservative amino acid change located in the M-band of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 244972 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.94024G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity	RCV000835252	SCV003821769	uncertain significance	not provided	2020-02-13	criteria provided, single submitter	clinical testing
KardioGenetik, Herz- und Diabeteszentrum NRW	RCV004569795	SCV005050126	uncertain significance	Hypertrophic cardiomyopathy 9	2024-04-02	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000835252	SCV001743963	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000835252	SCV001798202	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000835252	SCV001917301	uncertain significance	not provided		no assertion criteria provided	clinical testing