ClinVar Miner

Submissions for variant NM_198505.4(ATP13A5):c.1809C>G (p.Ser603Arg)

gnomAD frequency: 0.00001  dbSNP: rs541864223
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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 RCV004425817 SCV004913900 uncertain significance not specified 2024-02-28 criteria provided, single submitter clinical testing The c.1809C>G (p.S603R) alteration is located in exon 16 (coding exon 16) of the ATP13A5 gene. This alteration results from a C to G substitution at nucleotide position 1809, causing the serine (S) at amino acid position 603 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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