ClinVar Miner

Submissions for variant NM_001927.4(DES):c.500A>G (p.Glu167Gly)

dbSNP: rs1575013470
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002265924 SCV001164530 uncertain significance Desmin-related myofibrillar myopathy 2018-12-03 criteria provided, single submitter research The homozygous p.Glu167Gly variant in DES was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu167Gly variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).

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