ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.495+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics, Royal Melbourne Hospital RCV003994762 SCV004812861 uncertain significance Familial hemiplegic migraine 2023-09-04 criteria provided, single submitter clinical testing This sequence change in ATP1A2 occurs within the canonical splice donor site of intron 5. It is predicted to cause cryptic donor site activation resulting in an in-frame deletion (removes amino acids 163-165) in a region with an unknown role in protein function. This variant is absent from the population database gnomAD v2.1 and v3.1. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PVS1_Moderate, PM2_Supporting

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