ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003630293 SCV004409890 pathogenic Aortic aneurysm, familial thoracic 4 2023-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1446*) in the MYH11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYH11 are known to be pathogenic (PMID: 25407000, 29575632). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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