ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.925ATC[1] (p.Ile310del)

dbSNP: rs1554404031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520498 SCV000619998 uncertain significance not provided 2017-08-15 criteria provided, single submitter clinical testing The c.928_930delATC variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.928_930delATC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.928_930delATC variant results in an in-frame deletion of a single Isoleucine residue, denoted p.Ile310del. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, other in-frame deletions have not been reported in the Human Gene Mutation Database in association with RELN-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.
Revvity Omics, Revvity RCV003129883 SCV003813826 uncertain significance Norman-Roberts syndrome 2021-12-29 criteria provided, single submitter clinical testing

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