ClinVar Miner

Submissions for variant NM_022915.5(MRPL44):c.496G>A (p.Val166Met)

gnomAD frequency: 0.00019  dbSNP: rs141821599
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001861948 SCV002162524 uncertain significance not provided 2022-03-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 585160). This variant has not been reported in the literature in individuals affected with MRPL44-related conditions. This variant is present in population databases (rs141821599, gnomAD 0.06%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 166 of the MRPL44 protein (p.Val166Met).
GenomeConnect, ClinGen RCV000709982 SCV000840348 not provided Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.