ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.529+1G>A (rs769410348)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685365 SCV000812843 likely pathogenic Charcot-Marie-Tooth disease type 4 2017-11-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the SH3TC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs769410348, ExAC 0.001%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177). In 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.
Genesis Genome Database RCV000857158 SCV000999739 uncertain significance Charcot-Marie-Tooth disease, type I 2019-08-14 no assertion criteria provided research

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