ClinVar Miner

Submissions for variant NM_004945.3(DNM2):c.1798G>A (p.Glu600Lys) (rs951875086)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology RCV000856820 SCV000998950 uncertain significance Myopathy, centronuclear, 1 2019-11-08 criteria provided, single submitter clinical testing The Glu600Lys variant is not present in publicly available databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in our in-house exome database. The variant was also not reported to OMIM, ClinVar and Human Genome Mutation Database (HGMD) in any other affected individuals. It is present in the domain of the protein where mutations were reported earlier to cause neonatal centronuclear myopathy (Bitoun et al. Ann Neurol 2007). In-silico pathogenicity prediction programs like Mutation Taster2, CADD, InterVar etc. predicted this variant as likely disease causing.

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