ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) (rs104894077)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763605 SCV000894451 pathogenic Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease, recessive intermediate A 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000236485 SCV000292799 pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing The Q163X nonsense variant in the GDAP1 gene has been reported previously in association with autosomal recessive Charcot-Marie-Tooth (CMT) disease and is hypothesized to be a founder mutation in the Spanish population (Boerkoel et al., 2003; Cuesta et al., 2002). Heterozygous carriers of the Q163X variant were reported to be unaffected (Boerkoel et al., 2003). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and was not observed with any significant frequency in the 1000 Genomes Project.
GeneReviews RCV000031963 SCV000054655 pathologic Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000204463 SCV000260870 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln163*) in the GDAP1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs104894077, ExAC 0.02%). This variant has been reported in many individuals affected with autosomal recessive Charcot-Marie-Tooth disease, and co-segregates with disease in several families (PMID: 11743580, 12601710, 20849849). ClinVar contains an entry for this variant (Variation ID: 4193). Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004413 SCV000024586 pathogenic Neuropathy, axonal, with vocal cord paresis, autosomal recessive 2005-04-01 no assertion criteria provided literature only

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