ClinVar Miner

Submissions for variant NM_016156.5(MTMR2):c.357+4A>C (rs863224750)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195659 SCV000254941 uncertain significance Charcot-Marie-Tooth disease type 4 2017-05-12 criteria provided, single submitter clinical testing This sequence change falls in intron 4 of the MTMR2 gene. It does not directly change the encoded amino acid sequence of the MTMR2 protein, but it affects a nucleotide within the consensus splice site of the intron. 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. ClinVar contains an entry for this variant (Variation ID: 216646). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098) but according to multiple splice site algorithms this particular variant is not predicted to significantly affect splicing. These predictions have not been confirmed by published functional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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