ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.877G>A (p.Asp293Asn) (rs200289289)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422155 SCV000536509 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RELN gene. The D293N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D293N variant is observed in 4/6598 (0.06%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D293N 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.
Genetic Services Laboratory,University of Chicago RCV000422155 SCV000596765 uncertain significance not specified 2015-08-25 criteria provided, single submitter clinical testing
Invitae RCV001084733 SCV000656367 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000532150 SCV001155213 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159160 SCV001320848 uncertain significance Norman-Roberts syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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