ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=)

gnomAD frequency: 0.00021  dbSNP: rs374749325
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316861 SCV000349910 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.
Illumina Laboratory Services, Illumina RCV001093784 SCV000349911 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000584945 SCV000512195 likely benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000440971 SCV000612437 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000584945 SCV000692654 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ATP1A2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV000353370 SCV000756626 likely benign Familial hemiplegic migraine 2024-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000316861 SCV002539809 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259780 SCV002539810 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259779 SCV002539811 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001093784 SCV002539812 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing

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