ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr)

gnomAD frequency: 0.00006  dbSNP: rs369228503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731057 SCV000858828 uncertain significance not provided 2018-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001050765 SCV001214887 uncertain significance Familial hemiplegic migraine 2025-01-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1005 of the ATP1A2 protein (p.Ile1005Thr). This variant is present in population databases (rs369228503, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of ATP1A2-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 595497). 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.
Ambry Genetics RCV002440572 SCV002754196 uncertain significance Inborn genetic diseases 2018-04-24 criteria provided, single submitter clinical testing The p.I1005T variant (also known as c.3014T>C), located in coding exon 22 of the ATP1A2 gene, results from a T to C substitution at nucleotide position 3014. The isoleucine at codon 1005 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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