ClinVar Miner

Submissions for variant NM_001927.4(DES):c.500A>G (p.Glu167Gly) (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 Institute Rare Disease Group, Broad Institute RCV001004983 SCV001164530 uncertain significance Myofibrillar myopathy 1 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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