ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1000A>G (p.Thr334Ala)

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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 RCV002452464 SCV002613894 uncertain significance Inborn genetic diseases 2017-06-30 criteria provided, single submitter clinical testing The p.T334A variant (also known as c.1000A>G), located in coding exon 7 of the CACNA1A gene, results from an A to G substitution at nucleotide position 1000. The threonine at codon 334 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and alanine is the reference amino acid in other vertebrate species. 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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