ClinVar Miner

Submissions for variant NM_001122955.4(BSCL2):c.568_569insCA (p.Phe190fs)

gnomAD frequency: 0.00001  dbSNP: rs1244155207
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001970095 SCV002236793 pathogenic Charcot-Marie-Tooth disease type 2 2021-08-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe126Serfs*23) in the BSCL2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BSCL2 are known to be pathogenic (PMID: 11479539, 23564749). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BSCL2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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