ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.300C>T (p.Ser100=)

gnomAD frequency: 0.00008  dbSNP: rs111662326
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546316 SCV000641017 benign Aortic aneurysm, familial thoracic 4 2024-01-25 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000546316 SCV000745489 likely benign Aortic aneurysm, familial thoracic 4 2017-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777844 SCV000913845 benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781626 SCV000919811 benign not specified 2017-09-25 criteria provided, single submitter clinical testing Variant summary: The MYH11 c.300C>T (p.Ser100Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 16/121412 control chromosomes at a frequency of 0.0001318, which is approximately 105 times the estimated maximal expected allele frequency of a pathogenic MYH11 variant (0.0000013), suggesting this variant is likely a benign polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
GeneDx RCV001706667 SCV001867340 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000777844 SCV002754176 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-04-11 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000546316 SCV000745979 likely benign Aortic aneurysm, familial thoracic 4 2014-11-19 no assertion criteria provided clinical testing

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