Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156580 | SCV000206299 | uncertain significance | not specified | 2014-05-23 | criteria provided, single submitter | clinical testing | The Pro70Leu variant in GJB6 has not been previously reported in individuals wit h hearing loss and was absent from large population studies. Computational predi ction tools and conservation analyses suggest that the Pro70Leu variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the Pro70Leu variant is u ncertain. |
Illumina Laboratory Services, |
RCV000404790 | SCV000383099 | uncertain significance | Hidrotic ectodermal dysplasia syndrome | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV001558004 | SCV001779865 | uncertain significance | not provided | 2023-03-26 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30622556, 28501645) |
Preventiongenetics, |
RCV003390852 | SCV004120175 | uncertain significance | GJB6-related condition | 2023-08-01 | criteria provided, single submitter | clinical testing | The GJB6 c.209C>T variant is predicted to result in the amino acid substitution p.Pro70Leu. This variant was reported in the homozygous state in single individual with hearing loss from a consanguineous family (Alkowari. 2017. PubMed ID: 28501645) and in the heterozygous state without a second potentially causative variant in another individual with hearing loss Morgan. 2018. PubMed ID: 30622556). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/13-20797411-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |