ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser)

gnomAD frequency: 0.00001  dbSNP: rs200425518
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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 RCV000697585 SCV000826205 uncertain significance Familial hemiplegic migraine 2023-09-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 688 of the ATP1A2 protein (p.Ala688Ser). This variant is present in population databases (rs200425518, gnomAD 0.006%). 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: 575386). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV000763749 SCV000894635 uncertain significance Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533493 SCV003651171 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.2062G>T (p.A688S) alteration is located in exon 15 (coding exon 15) of the ATP1A2 gene. This alteration results from a G to T substitution at nucleotide position 2062, causing the alanine (A) at amino acid position 688 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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