ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln)

gnomAD frequency: 0.00003  dbSNP: rs781023681
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059948 SCV001224603 uncertain significance Familial hemiplegic migraine 2024-09-10 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 1008 of the ATP1A2 protein (p.Arg1008Gln). 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 ATP1A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 854821). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ATP1A2 protein function. 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.
GeneDx RCV001560428 SCV001782841 uncertain significance not provided 2021-01-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV001560428 SCV002770462 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004963071 SCV005513854 uncertain significance Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing The c.3023G>A (p.R1008Q) alteration is located in exon 22 (coding exon 22) of the ATP1A2 gene. This alteration results from a G to A substitution at nucleotide position 3023, causing the arginine (R) at amino acid position 1008 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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