ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5435_5440dup (p.Phe1812_Lys1813dup)

dbSNP: rs864309564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203002 SCV000257761 uncertain significance Aortic aneurysm, familial thoracic 4 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000203002 SCV004304229 uncertain significance Aortic aneurysm, familial thoracic 4 2024-01-12 criteria provided, single submitter clinical testing This variant, c.5456_5461dup, results in the insertion of 2 amino acid(s) of the MYH11 protein (p.Phe1819_Lys1820dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. ClinVar contains an entry for this variant (Variation ID: 218496). 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.

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