Submissions for variant NM_053025.4(MYLK):c.3075C>T (p.Pro1025=)

gnomAD frequency: 0.00016  dbSNP: rs144885184

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215944	SCV000269296	benign	not specified	2015-09-16	criteria provided, single submitter	clinical testing	p.Pro1025Pro in exon 18 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% (187/16510) of South Asian chromosomes including 4 homozygous individuals by the Exome Aggre gation Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs144885184).
PreventionGenetics, part of Exact Sciences	RCV000215944	SCV000315283	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000475139	SCV000560696	benign	Aortic aneurysm, familial thoracic 7	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000215944	SCV000717482	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	RCV001170122	SCV001332663	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	RCV000215944	SCV001623303	benign	not specified	2021-04-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812224	SCV002049121	benign	not provided	2022-03-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001170122	SCV002606796	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: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics	RCV002485375	SCV002802210	benign	Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	2021-07-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001812224	SCV005075113	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	MYLK: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001812224	SCV005303597	benign	not provided		criteria provided, single submitter	not provided