ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3131_3166del (p.1032AETLKPMGNAKP[1])

dbSNP: rs1560093606
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001216882 SCV001388700 uncertain significance Aortic aneurysm, familial thoracic 7 2021-08-20 criteria provided, single submitter clinical testing This variant, c.3131_3166del, results in the deletion of 12 amino acid(s) of the MYLK protein (p.Ala1044_Pro1055del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with MYLK-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Fulgent Genetics, Fulgent Genetics RCV002484178 SCV002794423 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-09-12 criteria provided, single submitter clinical testing

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