ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1156G>A (p.Val386Ile)

gnomAD frequency: 0.00003  dbSNP: rs137878081
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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 RCV001912978 SCV002169427 uncertain significance Familial hemiplegic migraine 2023-09-11 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1401612). This missense change has been observed in individual(s) with clinical features of autosomal dominant ATP1A2-related conditions (Invitae). This variant is present in population databases (rs137878081, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 386 of the ATP1A2 protein (p.Val386Ile).
GeneDx RCV003238876 SCV003936400 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter 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 RCV004681306 SCV005179022 uncertain significance Inborn genetic diseases 2024-05-14 criteria provided, single submitter clinical testing The c.1156G>A (p.V386I) alteration is located in exon 9 (coding exon 9) of the ATP1A2 gene. This alteration results from a G to A substitution at nucleotide position 1156, causing the valine (V) at amino acid position 386 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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