Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001008758 | SCV001168543 | pathogenic | not provided | 2023-04-30 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation [or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 18470948) |
| Mendelics | RCV001255745 | SCV002517750 | pathogenic | Feingold syndrome type 1 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV001255745 | SCV002768752 | pathogenic | Feingold syndrome type 1 | 2020-05-25 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0103 - Both loss- and gain-of-function are known mechanisms of disease for this gene (PMID: 18470948, 30573562). (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 2 of 3). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0702 - Comparable variants that also cause NMD have strong previous evidence for pathogenicity (ClinVar). (P) 0801 - Strong previous evidence of pathogenicity in two de novo patients with Feingold syndrome 1 (PMID: 18470948, 21224895). (P) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) |
| Labcorp Genetics |
RCV001008758 | SCV003524192 | pathogenic | not provided | 2022-09-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu47Glyfs*8) in the MYCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYCN are known to be pathogenic (PMID: 18470948). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Feingold syndrome (PMID: 18470948, 21224895). ClinVar contains an entry for this variant (Variation ID: 817596). For these reasons, this variant has been classified as Pathogenic. |
| Service de Génétique Moléculaire, |
RCV001255745 | SCV001432320 | likely pathogenic | Feingold syndrome type 1 | no assertion criteria provided | clinical testing |