ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) (rs201835018)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226549 SCV000291206 likely benign Aortic aneurysm, familial thoracic 7 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000498107 SCV000590640 uncertain significance not specified 2017-06-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MYLK gene. The N198S variant has not been published as pathogenic or been reported as benign to our knowledge. However, it has been observed in 10/66738 (0.015%) alleles from individuals of Non-Finnish European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N198S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, this substitution occurs at a position that is not conserved across species and serine (S) is the wild-type residue at this position in two mammalian species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Finally, this variant is also classified as a variant of uncertain significance in ClinVar by a different clinical laboratory (ClinVar SCV000291206.1; Landrum et al., 2016).
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659933 SCV000781837 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing

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