ClinVar Miner

Submissions for variant NM_198505.4(ATP13A5):c.3225C>A (p.Asn1075Lys)

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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 RCV004867000 SCV005511754 uncertain significance not specified 2024-10-12 criteria provided, single submitter clinical testing The c.3225C>A (p.N1075K) alteration is located in exon 27 (coding exon 27) of the ATP13A5 gene. This alteration results from a C to A substitution at nucleotide position 3225, causing the asparagine (N) at amino acid position 1075 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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