ClinVar Miner

Submissions for variant NM_152393.4(KLHL40):c.100G>C (p.Asp34His) (rs778565563)

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
Invitae RCV000793393 SCV000932742 uncertain significance Nemaline myopathy 8 2019-07-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with histidine at codon 34 of the KLHL40 protein (p.Asp34His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. This variant is present in population databases (rs778565563, ExAC 0.002%). This variant has been observed to segregate with nemaline myopathy in a family (PMID: 23746549). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000793393 SCV000992579 likely pathogenic Nemaline myopathy 8 2019-07-01 criteria provided, single submitter research ACMG codes: PS4M, PM1, PM2, PP3

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.