ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=)

gnomAD frequency: 0.02789  dbSNP: rs74123254
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340757 SCV000349922 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 RCV001093789 SCV000349923 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.
Invitae RCV000390132 SCV000556863 benign Familial hemiplegic migraine 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710691 SCV000840976 benign not provided 2017-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313857 SCV000847432 benign Inborn genetic diseases 2016-03-18 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.
GeneDx RCV000710691 SCV001944557 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000340757 SCV002539875 benign Alternating hemiplegia of childhood 1 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259631 SCV002539876 benign Developmental and epileptic encephalopathy 98 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259630 SCV002539877 benign Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001093789 SCV002539878 benign Migraine, familial hemiplegic, 2 2021-12-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000116453 SCV000150378 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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