ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr)

gnomAD frequency: 0.00006  dbSNP: rs199661793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641069 SCV000762687 likely benign Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001569523 SCV001793623 uncertain significance not provided 2019-03-07 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32668055)
Fulgent Genetics, Fulgent Genetics RCV000641069 SCV002815914 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-10-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001569523 SCV003832782 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing

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