ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.1575+3G>A

gnomAD frequency: 0.00001  dbSNP: rs377632137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443503 SCV000513769 benign not specified 2015-04-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000705658 SCV000834666 uncertain significance Aortic aneurysm, familial thoracic 4 2018-03-23 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the MYH11 gene. It does not directly change the encoded amino acid sequence of the MYH11 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs377632137, ExAC 0.001%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 378200). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH11 cause disease. 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.
Color Diagnostics, LLC DBA Color Health RCV001526226 SCV001736530 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-10-07 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +3 position of intron 14 of the MYH11 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 5/251004 chromosomes 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.

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