ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)

dbSNP: rs372887562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298963 SCV001488034 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541876 SCV003749382 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.5360G>A (p.R1787Q) alteration is located in exon 36 (coding exon 36) of the RELN gene. This alteration results from a G to A substitution at nucleotide position 5360, causing the arginine (R) at amino acid position 1787 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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