ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.8657A>G (p.His2886Arg)

dbSNP: rs778109079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239238 SCV000297183 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854919 SCV002190364 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 2886 of the RELN protein (p.His2886Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with RELN-related conditions. ClinVar contains an entry for this variant (Variation ID: 252644). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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