ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3414G>C (p.Lys1138Asn)

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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 RCV002712518 SCV003554357 uncertain significance Inborn genetic diseases 2021-02-23 criteria provided, single submitter clinical testing The c.3417G>C (p.K1139N) alteration is located in exon 20 (coding exon 20) of the CACNA1A gene. This alteration results from a G to C substitution at nucleotide position 3417, causing the lysine (K) at amino acid position 1139 to be replaced by an asparagine (N). The p.K1139N alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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