ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.409G>A (p.Glu137Lys)

dbSNP: rs1057518116
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413159 SCV000491526 likely pathogenic not provided 2016-06-27 criteria provided, single submitter clinical testing The E137K variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. It was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E137K variant is a non-conservative amino acid substitution that alters a conserved position within the S2 helical transmembrane segment of the first homologous domain. In silico analysis predicts this variant is probably damaging to the protein structure/function. The E137K variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.

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