ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1804del (p.Leu602fs)

dbSNP: rs1319576439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046103 SCV001209991 pathogenic Charcot-Marie-Tooth disease type 4 2023-05-04 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: 843466). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu602Cysfs*43) in the SH3TC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SH3TC2 are known to be pathogenic (PMID: 20220177, 27068304).

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