ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5969C>T (p.Pro1990Leu)

gnomAD frequency: 0.00013  dbSNP: rs149473868
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494345 SCV000582147 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33004838)
Ambry Genetics RCV000623654 SCV000742660 uncertain significance Inborn genetic diseases 2017-06-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001352529 SCV001547090 uncertain significance Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1990 of the RELN protein (p.Pro1990Leu). This variant is present in population databases (rs149473868, gnomAD 0.05%). 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: 429549). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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