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 likely pathogenic Charcot-Marie-Tooth disease, type 4A 2016-11-08 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 6 of the GDAP1 mRNA (c.1019dupT), causing a frameshift at codon 341. This creates a premature translational stop signal in the last exon of the GDAP1 mRNA (p.Arg341Glnfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated GDAP1 protein. This variant is present in population databases at a very low frequency (rs756461496, ExAC <0.01%). This variant has been reported in an individual affected with peripheral neuropathy (PMID: 25614874). This variant has also been observed in the Invitae database in multiple affected individuals. For these reasons, this variant has been classified as Likely 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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