ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro)

gnomAD frequency: 0.00001  dbSNP: rs376004873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318143 SCV000851330 uncertain significance Inborn genetic diseases 2018-05-14 criteria provided, single submitter clinical testing The p.H390P variant (also known as c.1169A>C), located in coding exon 12 of the ATP13A2 gene, results from an A to C substitution at nucleotide position 1169. The histidine at codon 390 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485813 SCV002784089 uncertain significance Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 2021-08-17 criteria provided, single submitter clinical testing

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