ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=)

gnomAD frequency: 0.00021  dbSNP: rs375255226
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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 RCV000290405 SCV000413431 benign Alternating hemiplegia of childhood 2 2018-01-12 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 RCV000327163 SCV000413432 benign Dystonia 12 2018-01-12 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.
Athena Diagnostics RCV000710700 SCV000840985 benign not provided 2018-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000327163 SCV001004837 likely benign Dystonia 12 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV000710700 SCV001816535 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000290405 SCV002538991 benign Alternating hemiplegia of childhood 2 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259870 SCV002538992 benign Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002259871 SCV002538993 benign Developmental and epileptic encephalopathy 99 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000327163 SCV002538994 benign Dystonia 12 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710700 SCV004011064 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing ATP1A3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000710700 SCV005208463 likely benign not provided criteria provided, single submitter not provided

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