ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1402-5C>G

dbSNP: rs372223335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191603 SCV001359477 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-08-21 criteria provided, single submitter clinical testing This variant causes a C>G nucleotide substitution at the -5 position of intron 13 of the MYH11 gene. Splicing prediction tools and conservation analyses are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001191603 SCV002699145 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-20 criteria provided, single submitter clinical testing The c.1402-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 12 in the MYH11 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559194 SCV003273835 likely benign Aortic aneurysm, familial thoracic 4 2024-11-04 criteria provided, single submitter clinical testing

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