ClinVar Miner

Submissions for variant NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)

gnomAD frequency: 0.00247  dbSNP: rs61730399
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000262915 SCV000358757 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000527612 SCV000514178 likely benign not provided 2021-09-20 criteria provided, single submitter clinical testing
Invitae RCV001082444 SCV000646073 likely benign Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000527612 SCV001147079 uncertain significance not provided 2018-01-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000527612 SCV001472562 uncertain significance not provided 2023-11-29 criteria provided, single submitter clinical testing The PLEKHG5 c.928G>A; p.Asp310Asn variant (rs61730399), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 297961). This variant is found in the general population with an overall allele frequency of 0.25% (702/281,830 alleles, including 1 homozygote) in the Genome Aggregation Database. The aspartic acid at codon 310 is weakly conserved, and computational analyses predict that this variant is neutral (REVEL: 0.075). However, due to limited information, the clinical significance of the p.Asp310Asn variant is uncertain at this time.
Mayo Clinic Laboratories, Mayo Clinic RCV000527612 SCV001713777 uncertain significance not provided 2019-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374506 SCV002684393 likely benign Inborn genetic diseases 2020-06-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences RCV003910089 SCV004725862 likely benign PLEKHG5-related disorder 2019-09-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.