ClinVar Miner

Submissions for variant NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg)

gnomAD frequency: 0.00004  dbSNP: rs753769576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548466 SCV000656254 likely benign Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 2023-10-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002282228 SCV002571997 uncertain significance not specified 2022-08-12 criteria provided, single submitter clinical testing Variant summary: RELN c.10102G>A (p.Gly3368Arg) results in a non-conservative amino acid change in 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 5.7e-05 in 282574 control chromosomes (gnomAD). To our knowledge, no occurrence of c.10102G>A in individuals affected with Epilepsy Familial Temporal Lobe 7 and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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