ClinVar Miner

Submissions for variant NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)

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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002470495 SCV002768014 uncertain significance Multiple mitochondrial dysfunctions syndrome 6 2019-08-28 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_004279.2(PMPCB):c.122G>A in exon 2 of 13 of the PMPCB gene. This substitution is predicted to create a minor amino acid change from arginine to lysine at position 41 of the protein, NP_004270.2(PMPCB):p.(Arg41Lys). The arginine at this position has low conservation (100 vertebrates, UCSC). It is located within the mitochondrial targeting sequence. In silico software predicts this variant to be benign (Polyphen, SIFT, CADD, Mutation Taster). The variant is present in the gnomAD population database at a frequency of 0.001% (4 heterozygotes, 0 homozygotes). The variant has not been previously reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).
Ambry Genetics RCV002571490 SCV003705123 uncertain significance Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing The c.122G>A (p.R41K) alteration is located in exon 2 (coding exon 2) of the PMPCB gene. This alteration results from a G to A substitution at nucleotide position 122, causing the arginine (R) at amino acid position 41 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.