ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1435G>T (p.Val479Leu)

gnomAD frequency: 0.00001  dbSNP: rs1220962945
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215329 SCV001387067 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-08-15 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 944838). This variant has not been reported in the literature in individuals affected with RELN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 479 of the RELN protein (p.Val479Leu).
GeneDx RCV001751401 SCV002007790 uncertain significance not provided 2019-03-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003284064 SCV003987259 uncertain significance Inborn genetic diseases 2023-06-07 criteria provided, single submitter clinical testing The c.1435G>T (p.V479L) alteration is located in exon 12 (coding exon 12) of the RELN gene. This alteration results from a G to T substitution at nucleotide position 1435, causing the valine (V) at amino acid position 479 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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