Submissions for variant NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)

gnomAD frequency: 0.00016  dbSNP: rs771742318

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000371369	SCV000395236	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000274493	SCV000395237	uncertain significance	Lissencephaly, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000543268	SCV000641063	likely benign	Aortic aneurysm, familial thoracic 4	2024-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001311432	SCV000727446	likely benign	not provided	2020-10-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000543268	SCV001274264	uncertain significance	Aortic aneurysm, familial thoracic 4	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, 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.
Color Diagnostics, LLC DBA Color Health	RCV000371369	SCV001350802	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001311432	SCV001501599	likely benign	not provided	2021-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000371369	SCV002642966	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-05-24	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	RCV003323513	SCV004028845	benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing