Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000723091 | SCV002383097 | benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002424740 | SCV002741098 | likely benign | Inborn genetic diseases | 2019-10-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Neuberg Centre For Genomic Medicine, |
RCV003338770 | SCV004048253 | uncertain significance | Finnish type amyloidosis | criteria provided, single submitter | clinical testing | The frameshift p.His4ArgfsTer86 variant in the GSN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.His4ArgfsTer86 variant is novel (not in any individuals) in 1000 Genomes. The variant is poorly covered in the gnomAD database and hence frequency estimates are not reliable. This variant causes a frameshift starting with codon Histidine 4, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 86 of the new reading frame, denoted p.His4ArgfsTer86. For these reasons, this variant has been classified as Uncertain Significance | |
| Gharavi Laboratory, |
RCV000723091 | SCV000854222 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |