ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4578+1G>T

dbSNP: rs397514037
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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 RCV000687071 SCV000814622 pathogenic Aortic aneurysm, familial thoracic 4 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in skipping of exon 33, but is expected to preserve the integrity of the reading-frame (PMID: 16444274). ClinVar contains an entry for this variant (Variation ID: 242663). This sequence change affects a donor splice site in intron 33 of the MYH11 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with thoracic aortic aneurysm and dissection (PMID: 16444274, 21937134; Invitae). It has also been observed to segregate with disease in related individuals.

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