Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001084929 | SCV000260005 | benign | Gorlin syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000484134 | SCV000565437 | uncertain significance | not provided | 2016-06-27 | criteria provided, single submitter | clinical testing | This variant is denoted PTCH1 c.4252G>A at the cDNA level, p.Val1418Ile (V1418I) at the protein level, and results in the change of a Valine to an Isoleucine (GTC>ATC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. PTCH1 Val1418Ile was not observed at significant allele frequency in the NHLBI Exome Sequencing Project or in 1000 Genomes. Since Valine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. PTCH1 Val1418Ile occurs at a position that is conserved in mammals and is not located in a known functional domain (UniProt). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available evidence, it is unclear whether PTCH1 Val1418Ile is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
Ambry Genetics | RCV000561736 | SCV000664954 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Sema4, |
RCV000561736 | SCV002535164 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-16 | criteria provided, single submitter | curation |