ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)

gnomAD frequency: 0.00004  dbSNP: rs554091859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494033 SCV000582660 likely benign not provided 2020-07-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28492532, 31719132)
Labcorp Genetics (formerly Invitae), Labcorp RCV000707375 SCV000836470 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323856 SCV002609902 uncertain significance Inborn genetic diseases 2018-02-28 criteria provided, single submitter clinical testing The p.A1077T variant (also known as c.3229G>A), located in coding exon 20 of the CACNA1A gene, results from a G to A substitution at nucleotide position 3229. The alanine at codon 1077 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.
Athena Diagnostics RCV004999538 SCV002770648 likely benign not specified 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000494033 SCV004811663 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing

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