ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) (rs1057518532)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658822 SCV000780618 likely pathogenic not provided 2018-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000413498 SCV000492271 uncertain significance not specified 2016-12-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The T1229M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The T1229M variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T1229M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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