ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) (rs116711766)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000116454 SCV000150379 likely benign not specified 2014-01-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116454 SCV000230129 benign not specified 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV000116454 SCV000240375 likely benign not specified 2017-12-07 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.
Invitae RCV000463966 SCV000556872 likely benign Familial hemiplegic migraine 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513747 SCV000610400 likely benign not provided 2017-06-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000116454 SCV000612445 benign not specified 2017-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000463966 SCV000847987 benign Familial hemiplegic migraine 2016-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001099608 SCV001256079 likely benign Familial hemiplegic migraine type 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001099609 SCV001256080 benign Alternating hemiplegia of childhood 1 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.

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