ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.703C>T (p.Gln235Ter) (rs1554548334)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542442 SCV000644076 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-02-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GDAP1 gene (p.Gln235*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 124 amino acids of the GDAP1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the homozygous state in an individual affected with Charcot-Marie-Tooth disease (PMID: 28751717). ClinVar contains an entry for this variant (Variation ID: 467768). A different truncation (p.Phe263Leufs*22) that lies downstream of this variant has been determined to be pathogenic (PMID: 12499475). This suggests that deletion of this region of the GDAP1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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