ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1345C>T (p.Arg449Ter)

gnomAD frequency: 0.00001  dbSNP: rs1057519293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000415578 SCV005186233 pathogenic Autosomal recessive spastic paraplegia type 78 criteria provided, single submitter clinical testing This variant is likely to result in premature truncation of the transcript which can lead to either nonsense-mediated mRNA decay or the formation of a truncated ATP13A2 protein product. The variant c.1345C>T is reported in the ClinVar database as a pathogenic in an independent entry (ClinVar ID: 374890).
OMIM RCV000415578 SCV000493976 pathogenic Autosomal recessive spastic paraplegia type 78 2017-02-01 no assertion criteria provided literature only
Solve-RD Consortium RCV004767252 SCV005091432 likely pathogenic Kufor-Rakeb syndrome 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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