ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.1789C>T (p.His597Tyr)

dbSNP: rs779014769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092666 SCV001249279 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856273 SCV002315206 benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031988 SCV004937392 uncertain significance Inborn genetic diseases 2023-11-17 criteria provided, single submitter clinical testing The c.1789C>T (p.H597Y) alteration is located in exon 15 (coding exon 15) of the RELN gene. This alteration results from a C to T substitution at nucleotide position 1789, causing the histidine (H) at amino acid position 597 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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