ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.579+1G>A (rs864622501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Inherited Neuropathy Consortium RCV000789161 SCV000928513 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000204949 SCV000260871 pathogenic Charcot-Marie-Tooth disease, type 4A 2018-10-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the GDAP1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant was reported as homozygous in an individual affected with autosomal recessive Charcot-Marie-Tooth disease type 4A (PMID: 12566285). ClinVar contains an entry for this variant (Variation ID: 220379). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic.

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