ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)

dbSNP: rs749526415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901839 SCV002135003 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422915 SCV002724514 uncertain significance Inborn genetic diseases 2017-11-02 criteria provided, single submitter clinical testing The p.N70S variant (also known as c.209A>G), located in coding exon 1 of the CACNA1A gene, results from an A to G substitution at nucleotide position 209. The asparagine at codon 70 is replaced by serine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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