ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5788C>T (p.Arg1930Ter)

gnomAD frequency: 0.00001  dbSNP: rs772670393
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599500 SCV000709823 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the MYH11 gene. The R1930X variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. R1930X results in the loss of the last 43 amino acids, resulting in a truncated protein product. While nonsense mutations have not been reported in HGMD in association with disease (Stenson P et al., 2014), the effect of this truncation on protein function cannot be predicted. The R1930X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics RCV002498875 SCV002812165 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV005372365 SCV006036117 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-03-13 criteria provided, single submitter clinical testing The p.R1930* variant (also known as c.5788C>T), located in coding exon 40 of the MYH11 gene, results from a C to T substitution at nucleotide position 5788. This changes the amino acid from an arginine to a stop codon within coding exon 40. This alteration occurs at the 3' terminus of theMYH11 gene, is not expected to trigger nonsense-mediated mRNAdecay, and impacts the last 2% of the protein. The exact functional effect of this alteration is unknown. Based on the available evidence, the clinical significance of this variant remains unclear.

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