ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.591dup (p.His198fs)

dbSNP: rs1455411788
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ege University Pediatric Genetics, Ege University RCV000790418 SCV000925656 likely pathogenic Pelizaeus-Merzbacher disease 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV002536883 SCV003455825 pathogenic Spastic paraplegia 2022-02-24 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GJC2 protein in which other variant(s) (p.Arg240*) have been determined to be pathogenic (PMID: 15192806; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 635342). This premature translational stop signal has been observed in individual(s) with Pelizaeus-Merzbacher disease (PMID: 31319225). This sequence change creates a premature translational stop signal (p.His198Thrfs*66) in the GJC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 242 amino acid(s) of the GJC2 protein.

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