ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) (rs756461496)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473867 SCV000544597 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-09-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GDAP1 gene (p.Arg341Glnfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the GDAP1 protein. This variant is present in population databases (rs756461496, ExAC 0.002%). This variant has been observed in several individuals affected with Charcot Marie Tooth disease (CMT) (PMID: 25614874, Invitae). ClinVar contains an entry for this variant (Variation ID: 406140). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000623049 SCV000742916 uncertain significance Inborn genetic diseases 2017-10-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Inherited Neuropathy Consortium RCV000789145 SCV000928497 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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