ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe)

gnomAD frequency: 0.00002  dbSNP: rs1303848624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710692 SCV000840977 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV001338170 SCV001531818 uncertain significance Familial hemiplegic migraine 2023-07-13 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 993 of the ATP1A2 protein (p.Leu993Phe). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 585461). 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) has been performed at Invitae 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.

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