ClinVar Miner

Submissions for variant NC_000005.10:g.(?_149040594)_(149040687_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001032608 SCV001195915 pathogenic Charcot-Marie-Tooth disease type 4 2019-08-26 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 7 of the SH3TC2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SH3TC2-related conditions. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304). For these reasons, this variant has been classified as Pathogenic.

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