Submissions for variant NM_000166.6(GJB1):c.454del (p.Val152fs)

dbSNP: rs1602349383

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001856241	SCV002236674	pathogenic	Charcot-Marie-Tooth Neuropathy X	2021-11-06	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GJB1 protein in which other variant(s) (p.Arg220*) have been determined to be pathogenic (PMID: 7477983, 8162049, 9364054, 21291455). 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: 637620). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth (CMT) disease (PMID: 21291455). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val152Serfs*44) in the GJB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 132 amino acid(s) of the GJB1 protein.
Inherited Neuropathy Consortium	RCV000789882	SCV000929267	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only
Inherited Neuropathy Consortium Ii, University Of Miami	RCV003447285	SCV004174659	uncertain significance	Charcot-Marie-Tooth disease X-linked dominant 1	2016-01-06	no assertion criteria provided	literature only