ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) (rs121918615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529838 SCV000632374 likely pathogenic Familial hemiplegic migraine 2017-05-16 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 979 of the ATP1A2 protein (p.Pro979Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with familial and sporadic hemiplegic migraine (PMID: 15159495, 23821026, 27790126) segregating with disease in one family (PMID: 15159495). Experimental evidence suggests that this variant results in an unstable protein at physiological temperature (PMID: 19372756). In summary, this variant is a rare variant that has been reported in affected individuals and experimental evidence suggests that it alters protein function but additional genetic and/or functional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000013788 SCV000034035 pathogenic Familial hemiplegic migraine type 2 2004-05-25 no assertion criteria provided literature only

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