ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3989C>T (p.Thr1330Ile)

gnomAD frequency: 0.00001  dbSNP: rs976060126
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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 RCV002315290 SCV000849018 uncertain significance Inborn genetic diseases 2017-02-10 criteria provided, single submitter clinical testing The c.3992C>T variant (also known as p.T1331I), located in coding exon 24 of the CACNA1A gene, results from a C to T substitution at nucleotide position 3992. The amino acid change results in threonine to isoleucine at codon 1331, an amino acid with similar properties. However, this change occurs in the last base pair of coding exon 24, which makes it likely to have some effect on normal mRNA splicing. This amino acid position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice donor site; however, direct evidence is unavailable. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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