ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter) (rs104894075)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000004410 SCV000544589 pathogenic Charcot-Marie-Tooth disease, type 4A 2019-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser194*) in the GDAP1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This particular variant has been reported in the homozygous state in individuals affected with Charcot-Marie-Tooth disease (PMID: 11743579, 21840889). ClinVar contains an entry for this variant (Variation ID: 4191). Loss-of-function variants in GDAP1 are known to be pathogenic (PMID: 11743580, 20685671). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000760312 SCV000890166 pathogenic not provided 2018-06-20 criteria provided, single submitter clinical testing The S194X nonsense variant in the GDAP1 gene has been reported previously in both the compound heterozygous state and homozygous state in multiple individuals with GDAP1-related disorders (Nelis et al., 2002; Azzedine et al., 2003; Baxter et al., 2002). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S194X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). This variant is classified as pathogenic.
OMIM RCV000004410 SCV000024582 pathogenic Charcot-Marie-Tooth disease, type 4A 2003-04-01 no assertion criteria provided literature only
OMIM RCV000004411 SCV000024584 pathogenic Charcot-Marie-Tooth disease type 2K 2003-04-01 no assertion criteria provided literature only
OMIM RCV000023562 SCV000044853 pathogenic Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2003-04-01 no assertion criteria provided literature only

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