ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys)

dbSNP: rs796052277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000505754 SCV000240369 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing p.Met813Lys (ATG>AAG): c.2438 T>A in exon 17 of the ATP1A2 gene (NM_000702.3). The Met813Lys missense change has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative as a uncharged, non-polar Methionine residue is replaced by a positively charged, polar Lysine residue. Met813Lys alters a conserved position in the M6 transmembrane domain of the ATP1A2 protein and several in-silico algorithms predict it may be damaging to the structure/function of the protein. The Met813Lys variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Baylor Genetics RCV003152594 SCV003841210 pathogenic Developmental and epileptic encephalopathy 98 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679915 SCV000807346 uncertain significance Migraine, familial hemiplegic, 2 2017-09-01 flagged submission clinical testing Likely pathogenicity based on finding it de novo in a 2-year-old male with developmental delay, seizure disorder, alternating hemiplegic migraine, and left hemiparesis.

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