ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1255_1271del (p.Pro419fs) (rs1553603732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000625960 SCV000746558 pathogenic Myofibrillar myopathy 1 2017-01-31 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found homozygous in an 18-year-old male with congenital hypotonia, motor delay, progressive muscle weakness, bilateral ptosis, ophthalmoparesis, tachycardia, myopathy on EMG, mild left median neuropathy on NCV, and ragged red fibers. In this consanguineous family, the variant segregated with disease in two affected siblings and 5 affected cousins.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531343 SCV001746397 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing

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