ClinVar Miner

Submissions for variant NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys)

gnomAD frequency: 0.00131  dbSNP: rs61755731
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767052 SCV000251616 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing p.Arg142Lys (AGA>AAA): c.425 G>A in exon 3 of the HSPD1 gene (NM_002156.4). The R142K variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI Exome Sequencing Project reports R142K was observed in 25/4406 alleles from individuals of African American background. The R142K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Athena Diagnostics Inc RCV000767052 SCV000613683 benign not provided 2021-12-07 criteria provided, single submitter clinical testing
Invitae RCV001088351 SCV000754279 benign Spastic paraplegia 2024-01-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000767052 SCV004225972 uncertain significance not provided 2022-04-15 criteria provided, single submitter clinical testing BS1

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.