ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2115+14C>T

gnomAD frequency: 0.00168  dbSNP: rs200854586
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123764 SCV000167107 benign not specified 2014-05-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Laboratory Services, Illumina RCV001098009 SCV001254345 benign Migraine, familial hemiplegic, 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV001098010 SCV001254346 benign Alternating hemiplegia of childhood 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV002055424 SCV002415065 benign Familial hemiplegic migraine 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001098010 SCV002539799 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259670 SCV002539800 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259669 SCV002539801 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001098009 SCV002539802 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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