ClinVar Miner

Submissions for variant NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV002291124 SCV004814133 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2FF 2021-04-10 criteria provided, single submitter clinical testing The CADM3 c.1102G>T p.(Gly368Cys) missense variant, also known as c.1000G>T p.(Gly334Cys), has not, to our knowledge, been reported in the peer-reviewed literature. TThis variant is not observed in version 2.1.1 of the Genome Aggregation Database. In silico tools do not consistently predict a functional consequence of this variant, which is located in the transmembrane domain. Based on the limited evidence, the c.1102G>T p.(Gly368Cys) variant is classified as a variant of uncertain significance for Charcot-Marie-Tooth disease, axonal, type 2FF.
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV002291124 SCV002583381 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2FF 2022-02-01 no assertion criteria provided clinical testing
Undiagnosed Diseases Network, NIH RCV002291124 SCV003915634 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2FF 2022-10-19 no assertion criteria provided clinical testing

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