ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.1121G>A (p.Arg374His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suma Genomics RCV003984877 SCV005340998 likely pathogenic Arthrogryposis criteria provided, single submitter clinical testing A missense variant c.1121G>A, p.(Arg374His) is observed in exon 7 of ACTC1 in heterozygous state. This variant is not observed in the gnomAD database. This variant is reported in the ClinVar database as pathogenic (ClinVar id. 2579718). Recently, a published report indicated monoallelic variants in ACTC1 are associated with arthrogryposis (PMID: 36945405). In this report, three individuals with arthrogryposis were found to have de novo variants in ACTC1.
Istanbul Faculty of Medicine, Istanbul University RCV003984877 SCV004035171 pathogenic Arthrogryposis 2023-07-20 no assertion criteria provided clinical testing This is a newly identified gene and a recently reported variant in distal arthrogryposis and cardiac defects (PMID: 36945405). The same variant is identified in a fetus with lethal multiple pterygium syndrome.

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