ClinVar Miner

Submissions for variant NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp)

dbSNP: rs121912679
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851956 SCV002219230 pathogenic not provided 2023-04-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 356 of the ACVR1 protein (p.Gly356Asp). This missense change has been observed in individuals with fibrodysplasia ossificans progressiva (PMID: 18203193, 19085907, 24051199, 26058333). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ACVR1 function (PMID: 18952055, 22977237, 24705251). 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. ClinVar contains an entry for this variant (Variation ID: 18310).
Mendelics RCV000019972 SCV002517514 pathogenic Progressive myositis ossificans 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000019972 SCV000040270 pathogenic Progressive myositis ossificans 2009-03-01 no assertion criteria provided literature only

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.