ClinVar Miner

Submissions for variant NM_001130004.2(ACTN1):c.2612G>A (p.Arg871His)

gnomAD frequency: 0.00026  dbSNP: rs371440985
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488971 SCV000577260 uncertain significance not provided 2017-04-06 criteria provided, single submitter clinical testing The R871H variant in the ACTN1 gene has not been reported previously as a germline pathogenic variant, nor as a benign variant, to our knowledge. The R871H variant is observed in 9/9776 (0.09%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R871H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R871H as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000488971 SCV003500108 likely benign not provided 2022-07-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000488971 SCV005191452 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003962357 SCV004785612 likely benign ACTN1-related disorder 2022-04-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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