Submissions for variant NM_053025.4(MYLK):c.3525C>T (p.Asp1175=)

gnomAD frequency: 0.00020  dbSNP: rs147735490

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214367	SCV000269301	benign	not specified	2015-09-16	criteria provided, single submitter	clinical testing	p.Asp1175Asp in exon 19 of MYLK: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.1% (184/16510) of South Asian chromosomes including 3 homozygous individuals by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs147735490).
PreventionGenetics, part of Exact Sciences	RCV000214367	SCV000315287	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376784	SCV000440297	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000463571	SCV000560657	benign	Aortic aneurysm, familial thoracic 7	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000214367	SCV000717484	benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000376784	SCV001332660	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-11-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000214367	SCV001623304	benign	not specified	2021-04-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812227	SCV002049806	benign	not provided	2022-03-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000376784	SCV002613421	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-06-11	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.