ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4130C>T (p.Thr1377Met) (rs750002545)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000576566 SCV000678227 uncertain significance Aortic aneurysm, familial thoracic 7 2017-08-01 criteria provided, single submitter clinical testing MYLK NM_053026 exon23 p.Thr1308Met (c.3923C>T): This variant has not been reported in the literature but is present in 2/34220 Latino chromosomes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs750002545). This variant methonine (Met) is present in >10 species including mammals, and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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