ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.231G>T (p.Gln77His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept of Medical Biology, Uskudar University RCV003318444 SCV004022015 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP3
Ambry Genetics RCV004333279 SCV005036704 uncertain significance Cardiovascular phenotype 2022-11-27 criteria provided, single submitter clinical testing The p.Q77H variant (also known as c.231G>T), located in coding exon 3 of the CACNA2D1 gene, results from a G to T substitution at nucleotide position 231. The glutamine at codon 77 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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