Submissions for variant NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)

gnomAD frequency: 0.00014  dbSNP: rs371602931

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001078568	SCV000440288	uncertain significance	Aortic aneurysm, familial thoracic 7	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae	RCV001078568	SCV000560686	likely benign	Aortic aneurysm, familial thoracic 7	2024-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000465200	SCV000719419	likely benign	not provided	2021-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000465200	SCV001154040	uncertain significance	not provided	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798793	SCV002043670	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001798793	SCV002624821	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-02-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003235194	SCV003934069	benign	not specified	2023-05-08	criteria provided, single submitter	clinical testing