ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.572A>T (p.His191Leu)

dbSNP: rs918350971
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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 RCV001348757 SCV001543068 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2020-09-25 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 histidine with leucine at codon 191 of the RELN protein (p.His191Leu). The histidine residue is moderately conserved and there is a moderate physicochemical difference between histidine and leucine.

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