Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658411 | SCV000780183 | uncertain significance | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing | The S2685P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S2685P variant is observed in 6/30780 (0.02%) alleles from individuals of South Asian background in large population cohorts (Lek et al., 2016). The S2685P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001233222 | SCV001405805 | likely benign | Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 | 2023-08-04 | criteria provided, single submitter | clinical testing |