ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) (rs143050366)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000194961 SCV000248691 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000766757 SCV000590155 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the RELN gene. The G370R variant has been reported previously in an individual with autism; however, it was inherited from the patient's mother and did not segregate with disease in the family (Bonora et al., 2003). The G370R variant is observed in 30/66,678 (0.04%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G370R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Glycine 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.
Fulgent Genetics,Fulgent Genetics RCV000764674 SCV000895804 uncertain significance Familial temporal lobe epilepsy 1; Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001080758 SCV001019678 likely benign Norman-Roberts syndrome; Epilepsy, familial temporal lobe, 7 2019-12-31 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252607 SCV001428366 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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