ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3096_3131del (p.1032_1043AETLKPMGNAKP[1])

dbSNP: rs758966808
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551877 SCV000650535 uncertain significance Aortic aneurysm, familial thoracic 7 2024-01-25 criteria provided, single submitter clinical testing This variant, c.3096_3131del, 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. This variant is present in population databases (rs758966808, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 471716). 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.
Ambry Genetics RCV002315008 SCV000739296 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-01-22 criteria provided, single submitter clinical testing The c.3096_3131del36 variant (also known as p.A1044_P1055DEL) is located in coding exon 15 of the MYLK gene. This variant results from an in-frame deletion of 36 nucleotides at positions 3096 to 3131. This results in the deletion of 12 amino acids between codons 1044 and 1055. Based on data from gnomAD, the in-frame deletion has an overall frequency of approximately 0.011% (32/282778). Since supporting evidence for this variant is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV002254934 SCV002526367 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-frame deletion of 12 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002491074 SCV002784071 uncertain significance Aortic aneurysm, familial thoracic 7; Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 2021-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962557 SCV004782250 uncertain significance MYLK-related condition 2023-12-27 criteria provided, single submitter clinical testing The MYLK c.3096_3131del36 variant is predicted to result in an in-frame deletion (p.Ala1044_Pro1055del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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