ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)

gnomAD frequency: 0.00038  dbSNP: rs200409290
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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 RCV000653016 SCV000774890 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001766419 SCV002007862 uncertain significance not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002532004 SCV003543643 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.6166C>T (p.P2056S) alteration is located in exon 41 (coding exon 41) of the RELN gene. This alteration results from a C to T substitution at nucleotide position 6166, causing the proline (P) at amino acid position 2056 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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