ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) (rs28934002)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229312 SCV001401754 uncertain significance Familial hemiplegic migraine 2019-09-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 378 of the ATP1A2 protein (p.Thr378Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with alternating hemiplegia of childhood in one family and is present in a second affected family in which it does not segregate with disease (PMID: 15286158, 15174025). ClinVar contains an entry for this variant (Variation ID: 12921). This variant has been reported to affect ATP1A2 protein function (PMID: 15286158). 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV000013784 SCV001428708 likely pathogenic Alternating hemiplegia of childhood 1 2019-09-16 criteria provided, single submitter clinical testing
OMIM RCV000013784 SCV000034031 pathogenic Alternating hemiplegia of childhood 1 2004-08-01 no assertion criteria provided literature only

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