ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp)

gnomAD frequency: 0.00008  dbSNP: rs371560228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662154 SCV000784501 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530593 SCV003551374 uncertain significance Inborn genetic diseases 2022-06-09 criteria provided, single submitter clinical testing The c.3439C>T (p.R1147W) alteration is located in exon 36 (coding exon 36) of the ATP8A2 gene. This alteration results from a C to T substitution at nucleotide position 3439, causing the arginine (R) at amino acid position 1147 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792354 SCV005408483 uncertain significance not provided 2023-10-24 criteria provided, single submitter clinical testing PM2_moderate

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