ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.654C>T (p.Asp218=)

gnomAD frequency: 0.00002  dbSNP: rs763948283
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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 RCV004732494 SCV005367878 benign Centronuclear myopathy 2024-08-07 reviewed by expert panel curation The variant NM_001005361.3:c.654C>T is a synonymous (silent) variant (p.Asp218=) in exon 5/21 of DNM2. The filtering allele frequency (the lower threshold of the 95% CI of 29/1180014) of the c.654C>T variant in DNM2 is 0.00001663 for European (non-Finnish) chromosomes by gnomAD v4.1, which is higher than the ClinGen Congenital Myopathies VCEP threshold (≥0.0000015) for BA1, and therefore meets this criterion (BA1). The c.654C>T (p.Asp218=) variant is a synonymous (silent) 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)
Labcorp Genetics (formerly Invitae), Labcorp RCV001492234 SCV001696841 likely benign Charcot-Marie-Tooth disease dominant intermediate B 2024-08-15 criteria provided, single submitter clinical testing
GeneDx RCV001549566 SCV001769745 likely benign not provided 2019-07-11 criteria provided, single submitter clinical testing

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