ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) (rs140811185)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764780 SCV000895923 uncertain significance 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
Invitae RCV000554435 SCV000644060 uncertain significance Charcot-Marie-Tooth disease, type 4A 2018-11-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 336 of the GDAP1 protein (p.Ala336Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs140811185, ExAC 0.02%) but has not been reported in the literature in individuals with a GDAP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.