ClinVar Miner

Submissions for variant NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)

dbSNP: rs387906589
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624246 SCV000741279 pathogenic Inborn genetic diseases 2016-02-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000022432 SCV000992702 likely pathogenic Progressive myositis ossificans 2018-10-12 criteria provided, single submitter clinical testing
Invitae RCV003556067 SCV004293409 pathogenic not provided 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ACVR1 function (PMID: 29307777). 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: 29595). This missense change has been observed in individual(s) with clinical features of fibrodysplasia ossificans progressiva (PMID: 19085907, 31012264, 33973349). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 328 of the ACVR1 protein (p.Gly328Glu).
OMIM RCV000022432 SCV000043721 pathogenic Progressive myositis ossificans 2009-03-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434306 SCV000505751 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only

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