ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.839C>T (p.Thr280Met) (rs202155679)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727032 SCV000293807 uncertain significance not provided 2016-08-31 criteria provided, single submitter clinical testing The T280M 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 T280M was observed in 2/122 alleles from Americans of African ancestry in the Southwest USA. The T280M 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 in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is 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 RCV001084696 SCV000640249 likely benign Charcot-Marie-Tooth disease, dominant intermediate B 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727032 SCV000705055 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing

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