ClinVar Miner

Submissions for variant NM_001353812.2(ATP11C):c.1574A>G (p.Gln525Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003492923 SCV004234553 uncertain significance X-linked congenital hemolytic anemia 2023-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364866 SCV004910012 uncertain significance not specified 2023-09-29 criteria provided, single submitter clinical testing The c.1583A>G (p.Q528R) alteration is located in exon 15 (coding exon 15) of the ATP11C gene. This alteration results from a A to G substitution at nucleotide position 1583, causing the glutamine (Q) at amino acid position 528 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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