ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs)

dbSNP: rs1568518139
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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 RCV002315355 SCV000849161 pathogenic Inborn genetic diseases 2017-03-09 criteria provided, single submitter clinical testing The c.1925delT pathogenic mutation, located in coding exon 15 of the CACNA1A gene, results from a deletion of one nucleotide at nucleotide position 1925, causing a translational frameshift with a predicted alternate stop codon (p.F642Sfs*17). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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