ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2120C>A (p.Ala707Asp)

gnomAD frequency: 0.00001  dbSNP: rs1391181719
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360391 SCV001556305 uncertain significance Familial hemiplegic migraine 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 707 of the ATP1A2 protein (p.Ala707Asp). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 1052245). 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) indicates that this missense variant is not expected to disrupt ATP1A2 protein function with a negative predictive value of 80%. 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 RCV003332330 SCV004039627 uncertain significance not provided 2023-08-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18184292)
Ambry Genetics RCV004036763 SCV004913935 uncertain significance Inborn genetic diseases 2023-12-22 criteria provided, single submitter clinical testing The c.2120C>A (p.A707D) alteration is located in exon 16 (coding exon 16) of the ATP1A2 gene. This alteration results from a C to A substitution at nucleotide position 2120, causing the alanine (A) at amino acid position 707 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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