ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn) (rs150936840)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620715 SCV000739281 uncertain significance Cardiovascular phenotype 2016-04-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient or conflicting evidence
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735407 SCV000854562 uncertain significance Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762384 SCV000892696 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000648721 SCV000898844 uncertain significance Aortic aneurysm, familial thoracic 7 2018-02-08 criteria provided, single submitter clinical testing MYLK NM_053025.3 exon 16 p.Asp717Asn (c.2149G>A): This variant has not been reported in the literature but is present in 13/34408 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs150936840). 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.
Invitae RCV000648721 SCV000770542 uncertain significance Aortic aneurysm, familial thoracic 7 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 717 of the MYLK protein (p.Asp717Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs150936840, ExAC 0.02%). This variant has been reported in an individual affected with autosomal dominant familial thoracic aortic aneurysm (PMID: 25326637). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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