ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln)

gnomAD frequency: 0.00036  dbSNP: rs202017613
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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 RCV000625793 SCV000746345 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2020-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868158 SCV002255423 likely benign not provided 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531927 SCV003567630 uncertain significance Inborn genetic diseases 2022-04-25 criteria provided, single submitter clinical testing The c.2333G>A (p.R778Q) alteration is located in exon 25 (coding exon 25) of the ATP8A2 gene. This alteration results from a G to A substitution at nucleotide position 2333, causing the arginine (R) at amino acid position 778 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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