ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3832-8G>C

dbSNP: rs202218458
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692869 SCV000820716 likely benign Aortic aneurysm, familial thoracic 7 2024-01-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000692869 SCV000898841 uncertain significance Aortic aneurysm, familial thoracic 7 2018-04-23 criteria provided, single submitter clinical testing MYLK NM_053025.3 exon 23 c.3832-8G>C: This variant has not been reported in the literature but is present in 4/33558 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202218458). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001553457 SCV001774328 likely benign not provided 2020-10-16 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224378 SCV003920251 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-03-30 criteria provided, single submitter clinical testing MYLK NM_053025.3 exon 23 c.3832-8G>C: This variant has not been reported in the literature but is present in 4/33558 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs202218458). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may not affect splicing. However, further studies are needed to understand its 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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