ClinVar Miner

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

dbSNP: rs864622501
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000204949 SCV000260871 pathogenic Charcot-Marie-Tooth disease type 4A 2022-12-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a donor splice site in intron 4 of the GDAP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580). This variant is present in population databases (no rsID available, gnomAD 0.0009%). Disruption of this splice site has been observed in individuals with autosomal recessive Charcot-Marie-Tooth disease type 4A (PMID: 12566285). ClinVar contains an entry for this variant (Variation ID: 220379). For these reasons, this variant has been classified as Pathogenic.
Molecular Genetics Laboratory, London Health Sciences Centre RCV000789161 SCV001336397 pathogenic Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002288831 SCV002578966 pathogenic Charcot-Marie-Tooth disease axonal type 2K 2022-03-22 criteria provided, single submitter clinical testing
OMIM RCV001839450 SCV000024590 pathogenic Charcot-Marie-Tooth disease recessive intermediate A 2003-03-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000789161 SCV000928513 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV001795333 SCV002034705 pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001795333 SCV002035296 pathogenic not provided no assertion criteria provided clinical testing
Inherited Neuropathy Consortium Ii, University Of Miami RCV002288831 SCV004174649 uncertain significance Charcot-Marie-Tooth disease axonal type 2K 2016-01-06 no assertion criteria provided literature only

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