ClinVar Miner

Submissions for variant NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln)

gnomAD frequency: 0.00001  dbSNP: rs566960742
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542360 SCV001761052 uncertain significance Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 2020-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002570653 SCV002949027 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 659 of the ATP8A2 protein (p.Arg659Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ATP8A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1184354). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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