ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.817C>T (p.Arg273Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053475 SCV001217739 pathogenic Charcot-Marie-Tooth disease, type 4A 2020-01-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GDAP1 gene (p.Arg273*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acids of the GDAP1 protein. This variant is present in population databases (rs150989205, ExAC 0.01%). This variant has been observed in an individual referred for neuropathy testing (PMID: 25614874). This variant disrupts the C-terminus of the GDAP1 protein. Other variant(s) that disrupt this region (p.Arg341Glnfs*12) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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