ClinVar Miner

Submissions for variant NM_201278.3(MTMR2):c.1319_1320TA[3] (p.Ser442fs) (rs1555057316)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465990 SCV000545486 pathogenic Charcot-Marie-Tooth disease type 4 2016-12-13 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotide in exon 13 of the MTMR2 mRNA (c.1537_1538dupTA), causing a frameshift at codon 514. This creates a premature translational stop signal (p.Ser514Thrfs*32) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MTMR2 are known to be pathogenic (PMID: 10802647). For these reasons, this variant has been classified as Pathogenic.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270134 SCV001449008 pathogenic Charcot-Marie-Tooth disease, type 4B1 2018-11-05 criteria provided, single submitter clinical testing

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