ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)

gnomAD frequency: 0.00031  dbSNP: rs147026512
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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) RCV000597124 SCV000701566 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000652995 SCV000774869 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-12-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765910 SCV000897330 uncertain significance Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530968 SCV003554939 uncertain significance Inborn genetic diseases 2022-11-09 criteria provided, single submitter clinical testing The c.5668A>G (p.I1890V) alteration is located in exon 38 (coding exon 38) of the RELN gene. This alteration results from a A to G substitution at nucleotide position 5668, causing the isoleucine (I) at amino acid position 1890 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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