ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala)

gnomAD frequency: 0.00004  dbSNP: rs371138642
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000143823 SCV000293007 uncertain significance not provided 2022-12-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 23628762, 20685671, 20849849)
Invitae RCV000643967 SCV000765654 uncertain significance Charcot-Marie-Tooth disease type 4A 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 83 of the GDAP1 protein (p.Gly83Ala). This variant is present in population databases (rs371138642, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 155752). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GDAP1 function (PMID: 18021315). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000143823 SCV001713470 uncertain significance not provided 2019-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426697 SCV002742831 uncertain significance Inborn genetic diseases 2020-11-13 criteria provided, single submitter clinical testing The p.G83A variant (also known as c.248G>C), located in coding exon 2 of the GDAP1 gene, results from a G to C substitution at nucleotide position 248. The glycine at codon 83 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant Charcot-Marie-Tooth disease; however, its contribution to the development of autosomal recessive Charcot-Marie-Tooth disease is uncertain.
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143823 SCV000188717 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.
Genesis Genome Database RCV000857204 SCV000999786 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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