ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5158G>A (p.Asp1720Asn) (rs368257155)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720347 SCV000851224 uncertain significance History of neurodevelopmental disorder 2016-09-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000413582 SCV000492328 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The D1720N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D1720N variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D1720N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. 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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