ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)

dbSNP: rs1558008455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003768048 SCV004629468 pathogenic Familial hemiplegic migraine 2024-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys702Serfs*12) in the ATP1A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP1A2 are known to be pathogenic (PMID: 30690204). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with ATP1A2-related conditions (PMID: 30690204). This variant is also known as c.2104_2105delTG. ClinVar contains an entry for this variant (Variation ID: 562228). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV001777174 SCV000809045 likely pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2024-11-15 no assertion criteria provided clinical testing
OMIM RCV001777174 SCV002014584 pathogenic Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-11-10 no assertion criteria provided literature only

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