ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.1348_1356delinsTCT (p.Glu450_Thr452delinsSer) (rs1064792964)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466368 SCV000550041 uncertain significance Aortic aneurysm, familial thoracic 7 2017-03-22 criteria provided, single submitter clinical testing This sequence change deletes 9 nucleotides from exon 11 of the MYLK mRNA and inserts 3 nucleotides (c.1348_1356delinsTCT). This leads to the deletion of three amino acid residues in the MYLK protein and the insertion of one amino acid residue (p.Glu450_Thr452delinsSer) but otherwise preserves the integrity of the reading frame. The frequency data for this variant (rs769458226) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a MYLK-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted and inserted amino acids is currently unknown. In summary, this variant is a rare in-frame deletion and insertion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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