Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520448 | SCV000619440 | uncertain significance | not provided | 2017-07-25 | criteria provided, single submitter | clinical testing | The S265F variant in the SH3TC2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not present in the homozygous state, this variant is observed in 12/10406 (0.11%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The S265F 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. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S265F as a variant of uncertain significance. |
Invitae | RCV000654163 | SCV000776053 | likely benign | Charcot-Marie-Tooth disease type 4 | 2020-01-04 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000520448 | SCV001145615 | uncertain significance | not provided | 2018-09-21 | criteria provided, single submitter | clinical testing |