ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.697G>T (p.Glu233Ter)

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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 RCV005116097 SCV005741732 pathogenic Charcot-Marie-Tooth disease type 4A 2024-02-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu233*) in the GDAP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 126 amino acid(s) of the GDAP1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. This variant disrupts a region of the GDAP1 protein in which other variant(s) (p.Arg341Glnfs*12) have been determined to be pathogenic (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. For these reasons, this variant has been classified as Pathogenic.

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