ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) (rs121918620)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037466 SCV001200881 pathogenic Familial hemiplegic migraine 2019-05-17 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 376 of the ATP1A2 protein (p.Thr376Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs121918620, ExAC 0.001%). This variant has been observed to segregate with familial hemiplegic migraine in families (PMID: PMID: 16088919, 17952365). ClinVar contains an entry for this variant (Variation ID: 12930). This variant has been reported to affect ATP1A2 protein function (PMID: 18728015). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013793 SCV000034040 pathogenic Familial hemiplegic migraine type 2 2007-01-01 no assertion criteria provided literature only

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