ClinVar Miner

Submissions for variant NM_198505.4(ATP13A5):c.2687G>A (p.Arg896Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004687593 SCV005178011 uncertain significance not specified 2024-03-21 criteria provided, single submitter clinical testing The c.2687G>A (p.R896Q) alteration is located in exon 24 (coding exon 24) of the ATP13A5 gene. This alteration results from a G to A substitution at nucleotide position 2687, causing the arginine (R) at amino acid position 896 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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