ClinVar Miner

Submissions for variant NM_002470.4(MYH3):c.5561A>G (p.Gln1854Arg)

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
Ambry Genetics RCV004959007 SCV005453642 uncertain significance Inborn genetic diseases 2024-08-26 criteria provided, single submitter clinical testing The c.5561A>G (p.Q1854R) alteration is located in exon 38 (coding exon 36) of the MYH3 gene. This alteration results from a A to G substitution at nucleotide position 5561, causing the glutamine (Q) at amino acid position 1854 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005107569 SCV005757633 uncertain significance not provided 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1854 of the MYH3 protein (p.Gln1854Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MYH3-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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.