ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala)

gnomAD frequency: 0.00020  dbSNP: rs147183887
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186798 SCV000240367 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Observed in individuals with sporadic hemiplegic migraine, benign paroxysmal torticollis of infancy, or seizures and developmental delay, but familial segregation information was not included (Aceves et al., 2013; Danielsson et al., 2018; Hesse et al., 2018); This variant is associated with the following publications: (PMID: 24396618, 29956301, 29778030)
Ambry Genetics RCV002312734 SCV000845857 benign Inborn genetic diseases 2022-05-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000715034 SCV001010225 likely benign Familial hemiplegic migraine 2023-12-13 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000186798 SCV001143131 benign not provided 2018-12-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000186798 SCV004032984 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ATP1A2: PP2, PP3, BS2

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