ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1690C>A (p.Leu564Ile)

gnomAD frequency: 0.00004  dbSNP: rs748901010
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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 RCV001203199 SCV001374351 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2022-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033564 SCV004937389 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.1690C>A (p.L564I) alteration is located in exon 14 (coding exon 14) of the RELN gene. This alteration results from a C to A substitution at nucleotide position 1690, causing the leucine (L) at amino acid position 564 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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