ClinVar Miner

Submissions for variant NM_001367549.1(ATP13A3):c.3041T>G (p.Ile1014Ser)

gnomAD frequency: 0.00046  dbSNP: rs201518494
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002957883 SCV003273650 likely benign not provided 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004067296 SCV003885666 uncertain significance not specified 2023-02-06 criteria provided, single submitter clinical testing The c.3041T>G (p.I1014S) alteration is located in exon 28 (coding exon 27) of the ATP13A3 gene. This alteration results from a T to G substitution at nucleotide position 3041, causing the isoleucine (I) at amino acid position 1014 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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