ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.965C>T (p.Thr322Met)

gnomAD frequency: 0.00012  dbSNP: rs199529910
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529356 SCV000644084 likely benign Charcot-Marie-Tooth disease type 4A 2023-12-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162808 SCV001324775 uncertain significance Charcot-Marie-Tooth disease recessive intermediate A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001162809 SCV001324776 uncertain significance Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173317 SCV001336405 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001553001 SCV001773795 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25614874)
Ambry Genetics RCV002384162 SCV002693879 likely benign Inborn genetic diseases 2022-04-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001553001 SCV003816760 uncertain significance not provided 2021-11-25 criteria provided, single submitter clinical testing

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