Submissions for variant NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val) (rs766613900)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000236613	SCV000293798	uncertain significance	not provided	2016-01-23	criteria provided, single submitter	clinical testing	The D473V variant in the DNM2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D473V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D473V variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D473V as a variant of uncertain significance
Illumina Clinical Services Laboratory,Illumina	RCV000367131	SCV000410367	uncertain significance	Charcot-Marie-Tooth, Intermediate	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000277608	SCV000410368	uncertain significance	Centronuclear Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing

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