Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231165 | SCV002508890 | uncertain significance | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 430653). This variant has not been reported in the literature in individuals affected with C8orf37-related conditions. This variant is present in population databases (rs375314973, gnomAD 0.08%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 178 of the C8orf37 protein (p.Ala178Val). |
Prevention |
RCV003431047 | SCV004118148 | uncertain significance | CFAP418-related condition | 2023-08-16 | criteria provided, single submitter | clinical testing | The CFAP418 c.533C>T variant is predicted to result in the amino acid substitution p.Ala178Val. This variant has been reported as a possible modifier allele for Bardet-Biedl syndrome (reported as C8ORF37, Yıldız Bölükbaşı et al. 2018. PubMed ID: 29127258). This variant is reported in 0.082% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-96259936-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Tolun Lab, |
RCV000585748 | SCV000583519 | uncertain significance | Bardet-biedl syndrome 21 | no assertion criteria provided | research | It is a missense variant. |