ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.753_755TGA[1] (p.Asp252del) (rs878855016)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234178 SCV000290181 uncertain significance Charcot-Marie-Tooth disease type 4 2016-02-25 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 8 of the MTMR2 mRNA (c.756_758delTGA). This leads to the deletion of 1 amino acid residue in the MTMR2 protein (p.Asp252del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MTMR2-related disease. This deletion affects a highly conserved aspartic acid residue and is located in the functionally important protein tyrosine phosphatase domain of the MTMR2 protein (PMID: 14690594, 16262718). In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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