Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Genetics and Molecular Pathology, |
RCV002466823 | SCV002761537 | likely pathogenic | Familial visceral amyloidosis, Ostertag type | 2021-05-14 | criteria provided, single submitter | clinical testing | The FGA c.713delA variant is classified as Likely Pathogenic (PVS1_Strong, PM2) |
| Victorian Clinical Genetics Services, |
RCV004785730 | SCV003921827 | pathogenic | Congenital afibrinogenemia | 2022-02-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with congenital afibrinogenemia (MIM#202400) (PMID:17295221). The disease mechanism of familial visceral amyloidosis (MIM#105200) is unclear. (I) 0108 - This gene is associated with both recessive and dominant disease. Premature termination variants (PTVs) located downstream of ~p.500 are associated with autosomal dominant familial visceral amyloidosis (MIM#105200). PTVs located upstream are associated with autosomal recessive congenital afibrinogenemia (MIM#202400). (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0219 - This variant is not NMD-predicted in an alternative transcript (NM_021871.2). (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other premature termination variants (PTVs) comparable to the one identified in this case have very strong previous evidence for pathogenicity. There are many PTVs reported as likely pathogenic/pathogenic (ClinVar and PMIDs: 17295221, 19073821, 31064749). (SP) 0807 - This variant has no previous evidence of pathogenicity. (I) 0905 - No published segregation evidence has been identified for this variant. (I) 1007 - No published functional evidence has been identified for this variant. (I) 1207 - Parental origin of the variant is unresolved. This variant is not maternally inherited (by duo analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |