ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.438dup (p.Thr147fs)

dbSNP: rs2071649166
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179900 SCV001344701 uncertain significance Cardiomyopathy 2019-01-31 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant inserts 1 nucleotide in the last exon 7 of the MYL2 gene and causes a frameshift. As a result, it is expected that the last 20 amino acids of the protein are disrupted and 35 new amino acids are added. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively.

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