ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1404A>G (p.Glu468=)

dbSNP: rs397516691
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037233 SCV000060890 likely benign not specified 2011-12-01 criteria provided, single submitter clinical testing Glu468Glu in exon 9 of DES: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Glu468Glu in exon 9 of DES (allele frequency = n/a)
Eurofins Ntd Llc (ga) RCV000725821 SCV000339622 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000725821 SCV000718822 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing
Invitae RCV001078786 SCV000773407 likely benign Desmin-related myofibrillar myopathy 2023-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390149 SCV002696790 likely benign Cardiovascular phenotype 2022-06-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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