Submissions for variant NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)

gnomAD frequency: 0.00015  dbSNP: rs147008323

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084516	SCV000291191	benign	Aortic aneurysm, familial thoracic 7	2024-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084516	SCV000440321	likely benign	Aortic aneurysm, familial thoracic 7	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV002313961	SCV000739285	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001569565	SCV000885793	likely benign	not provided	2020-02-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001569565	SCV001793671	likely benign	not provided	2021-05-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002229665	SCV002511914	likely benign	not specified	2022-04-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494665	SCV002799878	likely benign	Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	2021-08-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV002313961	SCV003838261	benign	Familial thoracic aortic aneurysm and aortic dissection	2021-10-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001569565	SCV001807330	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001569565	SCV001964501	uncertain significance	not provided		no assertion criteria provided	clinical testing