ClinVar Miner

Submissions for variant NM_017534.6(MYH2):c.2768C>G (p.Ala923Gly)

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 RCV003061523 SCV003459775 uncertain significance Myopathy, proximal, and ophthalmoplegia 2022-08-25 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 923 of the MYH2 protein (p.Ala923Gly). This variant has not been reported in the literature in individuals affected with MYH2-related conditions. 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: "Benign"; Align-GVGD: "Class C55"). 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.
Ambry Genetics RCV003074906 SCV003565262 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.2768C>G (p.A923G) alteration is located in exon 23 (coding exon 21) of the MYH2 gene. This alteration results from a C to G substitution at nucleotide position 2768, causing the alanine (A) at amino acid position 923 to be replaced by a glycine (G). 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.