ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) (rs370115218)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204837 SCV000260918 pathogenic Charcot-Marie-Tooth disease type 4 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1052*) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs370115218, ExAC 0.01%). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (PMID: 25614874, Invitae). ClinVar contains an entry for this variant (Variation ID: 220408). Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000578944 SCV000680763 pathogenic not provided 2018-12-28 criteria provided, single submitter clinical testing The R1052X variant in the SH3TC2 gene has been reported previously in association with neuropathy (DiVincenzo et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R1052X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R1052X as a pathogenic variant.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172827 SCV001335898 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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