ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.633+1900G>A

gnomAD frequency: 0.00013  dbSNP: rs371799677
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703812 SCV000523889 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625180 SCV000744028 likely benign Aortic aneurysm, familial thoracic 4 2016-12-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191118 SCV001358814 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000425729 SCV001774745 benign not specified 2021-07-12 criteria provided, single submitter clinical testing Variant summary: MYH11 c.634-12G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.0001 in 248956 control chromosomes, predominantly at a frequency of 0.0002 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 16 fold of the estimated maximal expected allele frequency for a pathogenic variant in MYH11 causing Thoracic Aortic Aneurysms And Dissections phenotype (1.3e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no occurrence of c.634-12G>A in individuals affected with Thoracic Aortic Aneurysms And Dissections and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000625180 SCV002355280 likely benign Aortic aneurysm, familial thoracic 4 2023-10-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502530 SCV002807690 likely benign Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-09-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625180 SCV000745976 likely benign Aortic aneurysm, familial thoracic 4 2017-10-19 no assertion criteria provided clinical testing

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