ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)

gnomAD frequency: 0.00004  dbSNP: rs775079932
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710947 SCV000841261 uncertain significance not provided 2017-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710947 SCV000892549 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796725 SCV000936250 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000710947 SCV001815015 likely benign not provided 2020-04-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31731261)
Ambry Genetics RCV002325440 SCV002610193 likely benign Inborn genetic diseases 2019-05-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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