ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)

dbSNP: rs73714410
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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 RCV001231992 SCV001404533 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563213 SCV003684662 uncertain significance Inborn genetic diseases 2022-02-26 criteria provided, single submitter clinical testing The c.9730G>C (p.G3244R) alteration is located in exon 60 (coding exon 60) of the RELN gene. This alteration results from a G to C substitution at nucleotide position 9730, causing the glycine (G) at amino acid position 3244 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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