ClinVar Miner

Submissions for variant NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs) (rs751292488)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699857 SCV000828586 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-12-11 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MTMR2 gene (p.Ala629Glufs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the MTMR2 protein and extend the protein by an additional 15 amino acids. This variant is present in population databases (rs751292488, ExAC 0.005%). This variant has been observed to be homozygous or compound heterozygous in individuals affected with Charcot-Marie-Tooth disease (PMID: 28509084, Invitae). This variant is also known as c.1877_1878insAGAG in the literature. IIn summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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