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	RCV000641115	SCV000762737	likely benign	Charcot-Marie-Tooth disease, dominant intermediate B	2017-08-14	criteria provided, single submitter	clinical testing

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