ClinVar Miner

Submissions for variant NM_001330078.2(NRXN1):c.2893G>T (p.Val965Leu) (rs1057524337)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437711 SCV000535251 uncertain significance not provided 2016-12-30 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The D2074N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D2074N variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D2074N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, this substitution occurs at a position where amino acids with similar properties to Aspartic acid are tolerated across species. 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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