Total submissions: 2
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, |
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. |