ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val)

gnomAD frequency: 0.00004  dbSNP: rs370396470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247951 SCV001421407 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322162 SCV002607951 uncertain significance Inborn genetic diseases 2017-11-10 criteria provided, single submitter clinical testing The p.G1042V variant (also known as c.3125G>T), located in coding exon 20 of the CACNA1A gene, results from a G to T substitution at nucleotide position 3125. The glycine at codon 1042 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004769966 SCV005377621 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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