ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1372-3dup

dbSNP: rs876657769
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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 RCV000220968 SCV000271617 uncertain significance not specified 2015-05-14 criteria provided, single submitter clinical testing The c.1372-3_1372-2insC variant in DES has not been previously reported in indiv iduals with cardiomyopathy, but has been identified in 3/11576 Latino chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Th is variant results in the insertion of a single nucleotide in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. In summary, the clin ical significance of the c.1372-3_1372-2insC variant is uncertain.
Eurofins Ntd Llc (ga) RCV000824726 SCV000342348 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000824726 SCV000568063 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing
Invitae RCV001440302 SCV001643208 likely benign Desmin-related myofibrillar myopathy 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381742 SCV002698024 uncertain significance Cardiovascular phenotype 2022-05-10 criteria provided, single submitter clinical testing The c.1372-3dupC intronic variant, results from a duplication of two nucleotides at nucleotide position 1372 before intron 8 of the DES gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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