ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3831+5G>A

dbSNP: rs1198605932
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313419 SCV000739284 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-04-15 criteria provided, single submitter clinical testing The c.3831+5G>A intronic variant results from a G to A substitution 5 nucleotides downstream of coding exon 19 in the MYLK gene. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice donor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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