ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.752A>G (p.Lys251Arg)

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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 RCV002712169 SCV003548659 uncertain significance Inborn genetic diseases 2020-11-19 criteria provided, single submitter clinical testing The c.752A>G (p.K251R) alteration is located in coding exon 5 of the CACNA1A gene. This alteration results from an A to G substitution at nucleotide position 752, causing the lysine (K) at amino acid position 251 to be replaced by an arginine (R). Based on data from the Genome Aggregation Database (gnomAD), the CACNA1A c.752A>G alteration was not observed, with coverage at this position. This amino acid position is highly conserved in available vertebrate species. This missense alteration is located in a region that has a low rate of benign missense variation (Lek, 2016; Firth, 2009). The in silico prediction for the p.K251R alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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