Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000492811 | SCV000583368 | uncertain significance | not provided | 2017-05-25 | criteria provided, single submitter | clinical testing | The V3221M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). V3221M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Blueprint Genetics | RCV001075228 | SCV001240842 | uncertain significance | Retinal dystrophy | 2017-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000492811 | SCV001498905 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |