ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2894G>A (p.Gly965Glu)

dbSNP: rs2512905986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002849620 SCV003616367 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.2897G>A (p.G966E) alteration is located in exon 19 (coding exon 19) of the CACNA1A gene. This alteration results from a G to A substitution at nucleotide position 2897, causing the glycine (G) at amino acid position 966 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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