ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)

gnomAD frequency: 0.00014  dbSNP: rs757501817
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301549 SCV000395229 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340220 SCV000395230 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001697743 SCV000535599 likely benign not provided 2021-03-16 criteria provided, single submitter clinical testing
Invitae RCV000550987 SCV000641066 likely benign Aortic aneurysm, familial thoracic 4 2024-01-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000550987 SCV001279682 uncertain significance Aortic aneurysm, familial thoracic 4 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.
Color Diagnostics, LLC DBA Color Health RCV000301549 SCV001342157 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000301549 SCV002646120 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-25 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
All of Us Research Program, National Institutes of Health RCV000301549 SCV004815570 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-11 criteria provided, single submitter clinical testing

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