ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.162-6del

gnomAD frequency: 0.00001  dbSNP: rs766449694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Congenital Myopathies Variant Curation Expert Panel, ClinGen RCV004732487 SCV005367874 benign Centronuclear myopathy 2024-08-07 reviewed by expert panel curation The variant NM_001005361.3:c.162-6del in DNM2 is an intronic deletion variant. The highest population filtering allele frequency in gnomAD v4.1 is 0.0001715 (15/60000 alleles) in the Admixed American population, which is higher than the ClinGen Congenital Myopathies VCEP threshold (≥0.0000015) for BA1, and therefore meets this criterion (BA1). The c.162-6del variant is an intronic variant that is not predicted by SpliceAI to impact splicing. In addition, it occurs at a nucleotide that is not conserved as shown by UCSC Genome Browser (BP4, BP7). In summary, this variant meets the criteria to be classified as benign for autosomal dominant centronuclear myopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen Congenital Myopathies VCEP: BA1, BP4, BP7. (ClinGen Congenital Myopathies VCEP specifications version 1; 8/7/2024)
GeneDx RCV000604663 SCV000721725 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000641116 SCV000762738 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2023-09-17 criteria provided, single submitter clinical testing

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