ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) (rs375151459)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236409 SCV000294110 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The D106N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The 1000 Genomes Project Consortium reports D106N was observed in 1/198 alleles from individuals of Esan in Nigeria background, while the Exome Aggregation Consortium (ExAC), reports D106N was observed in 0.15% of alleles from individuals of East Asian background including one homozygous individual. The D106N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001082575 SCV000762737 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2019-12-31 criteria provided, single submitter clinical testing

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