ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)

dbSNP: rs2145977694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002017694 SCV002306435 likely pathogenic Dystonia 12 2021-08-27 criteria provided, single submitter clinical testing
Mendelics RCV002017694 SCV002516236 likely pathogenic Dystonia 12 2022-05-04 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV002017694 SCV004047793 uncertain significance Dystonia 12 criteria provided, single submitter clinical testing The missense variant c.973G>C (p.Gly325Arg) has been submitted to ClinVar as Likely Pathogenic, but no details are available for independent assessment. It has not been reported in affected individuals. The p.Gly325Arg variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Gly at position 325 is changed to a Arg changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Gly325Arg in ATP1A3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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