ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.3552_3553delinsTA (p.Glu1185Lys)

dbSNP: rs1831492761
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001315564 SCV001506142 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2020-10-29 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with RELN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1185 of the RELN protein (p.Glu1185Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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