ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.4517T>A (p.Val1506Asp)

dbSNP: rs1554381609
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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 RCV000538335 SCV000656302 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-09-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RELN-related disease. This sequence change replaces valine with aspartic acid at codon 1506 of the RELN protein (p.Val1506Asp). The valine residue is highly conserved and there is a large physicochemical difference between valine and aspartic acid.

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