ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)

dbSNP: rs779530655
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652998 SCV000774872 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-11-19 criteria provided, single submitter clinical testing
GeneDx RCV002285391 SCV002576112 uncertain significance not provided 2022-03-21 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
Ambry Genetics RCV002534190 SCV003558768 uncertain significance Inborn genetic diseases 2021-04-01 criteria provided, single submitter clinical testing The c.1379A>C (p.K460T) alteration is located in exon 12 (coding exon 12) of the RELN gene. This alteration results from a A to C substitution at nucleotide position 1379, causing the lysine (K) at amino acid position 460 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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