ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) (rs7196804)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757516 SCV000885770 likely benign not provided 2018-06-29 criteria provided, single submitter clinical testing The MYH11 c.3928G>A p.Val1310Met variant (rs7196804), is reported in the literature in patients with aortopathies and classified as likely benign. This variant is found in the African population with an overall allele frequency of 0.52% (125/24024 alleles, but 0 homozygotes) in the Genome Aggregation Database, and is found in ClinVar (Variation ID: 201068). The valine at codon 1310 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Based on available information, this variant is considered to be likely benign.
Ambry Genetics RCV000182512 SCV000319366 benign Cardiovascular phenotype 2016-03-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769666 SCV000901076 likely benign Thoracic aortic aneurysm and aortic dissection 2017-05-12 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000459113 SCV000898837 uncertain significance Aortic aneurysm, familial thoracic 4 2018-02-08 criteria provided, single submitter clinical testing MYH11 NM_002474.2 exon 29 p.Val1310Met (c.3928G>A): This variant has not been reported in the literature but is present in 0.5% (125/24024) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs7196804). This variant is present in ClinVar, with several labs classifying this variant as likely benign or benign(Variation ID:201068). Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Human Genetics, Inc RCV000680555 SCV000807967 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000769666 SCV000904522 benign Thoracic aortic aneurysm and aortic dissection 2018-10-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000417389 SCV000702026 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
GeneDx RCV000417389 SCV000234858 likely benign not specified 2017-09-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000398079 SCV000395294 uncertain significance Lissencephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459113 SCV000556093 likely benign Aortic aneurysm, familial thoracic 4 2018-01-02 criteria provided, single submitter clinical testing

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