ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)

gnomAD frequency: 0.00007  dbSNP: rs367745335
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431349 SCV000530121 uncertain significance not provided 2024-07-12 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002059821 SCV002402156 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2024-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418306 SCV002722906 uncertain significance Inborn genetic diseases 2018-03-29 criteria provided, single submitter clinical testing The p.R66H variant (also known as c.197G>A), located in coding exon 3 of the ATP13A2 gene, results from a G to A substitution at nucleotide position 197. The arginine at codon 66 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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