ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.7282C>T (p.Arg2428Trp)

gnomAD frequency: 0.00002  dbSNP: rs751431158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001930756 SCV002193614 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2024-05-28 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003988875 SCV004805521 uncertain significance Norman-Roberts syndrome 2024-03-25 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005057779 SCV005726392 uncertain significance not specified 2024-11-13 criteria provided, single submitter clinical testing Variant summary: RELN c.7282C>T (p.Arg2428Trp) results in a non-conservative amino acid change located in the N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251288 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.7282C>T in individuals affected with Epilepsy Familial Temporal Lobe 7 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1415002). Based on the evidence outlined above, the variant was classified as uncertain significance.

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