Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002493436 | SCV002783513 | uncertain significance | Bardet-Biedl syndrome 1 | 2022-04-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002535756 | SCV003466890 | uncertain significance | Bardet-Biedl syndrome | 2022-02-23 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 554 of the BBS1 protein (p.Ser554Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 636150). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
Dept Of Ophthalmology, |
RCV003889984 | SCV004707626 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Department of Clinical Genetics, |
RCV000787784 | SCV000926792 | uncertain significance | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Prevention |
RCV004742636 | SCV005345393 | uncertain significance | BBS1-related disorder | 2024-04-09 | no assertion criteria provided | clinical testing | The BBS1 c.1660A>T variant is predicted to result in the amino acid substitution p.Ser554Cys. This variant was reported as a variant of uncertain significance in the homozygous state in an individual with retinitis pigmentosa (Table S4 Jespersgaard et al. 2019. PubMed ID: 30718709). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |