ClinVar Miner

Submissions for variant NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)

dbSNP: rs769429967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991442 SCV001142839 likely pathogenic Charcot-Marie-Tooth disease type 4B1 2019-06-20 criteria provided, single submitter clinical testing
Invitae RCV001858734 SCV002184831 pathogenic Charcot-Marie-Tooth disease type 4 2023-01-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 804461). This variant has not been reported in the literature in individuals affected with MTMR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys256Glufs*20) in the MTMR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MTMR2 are known to be pathogenic (PMID: 10802647).
Section for Clinical Neurogenetics, University of Tübingen RCV000991442 SCV001156093 likely pathogenic Charcot-Marie-Tooth disease type 4B1 2019-08-01 no assertion criteria provided research

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