ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)

gnomAD frequency: 0.02366  dbSNP: rs28413664
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116522 SCV000523116 benign not specified 2016-02-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001084174 SCV000656742 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000710944 SCV000841257 benign not provided 2017-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312050 SCV000847020 benign Inborn genetic diseases 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV000710944 SCV005315288 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000116522 SCV000150471 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000710944 SCV002033925 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000710944 SCV002035941 likely benign not provided no assertion criteria provided clinical testing

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