ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)

gnomAD frequency: 0.00004  dbSNP: rs766869538
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595058 SCV000707758 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000693507 SCV000821378 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2025-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001270771 SCV001451523 uncertain significance Norman-Roberts syndrome 2019-02-21 criteria provided, single submitter clinical testing The RELN c.7590C>A (p.Asn2530Lys) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000174 in the Latino population the Genome Aggregation Database. Based on the limited evidence, the p.Asn2530Lys variant is classified as a variant of uncertain significance for lissencephaly 2.
Mayo Clinic Laboratories, Mayo Clinic RCV000595058 SCV004224059 uncertain significance not provided 2023-02-08 criteria provided, single submitter clinical testing BP4, PM2

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