ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) (rs56342240)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173031 SCV000113138 likely benign not specified 2014-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000173031 SCV000152497 likely benign not specified 2017-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000173031 SCV000490765 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RELN gene. The I1217M variant is observed in 298/66,736 (0.4%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I1217M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000081230 SCV000609270 likely benign not provided 2020-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000081230 SCV000614866 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
Invitae RCV001083944 SCV000656287 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987939 SCV001137433 benign Norman-Roberts syndrome 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000987939 SCV001323865 likely benign Norman-Roberts syndrome 2017-05-09 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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