ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)

gnomAD frequency: 0.00001  dbSNP: rs544767888
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001107217 SCV001264357 uncertain significance Bardet-Biedl syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002558075 SCV003029446 uncertain significance Bardet-Biedl syndrome 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 559 of the BBS1 protein (p.Gly559Asp). This variant is present in population databases (rs544767888, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 879585). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Center for Human Genetics Tuebingen RCV003222224 SCV003916730 uncertain significance not provided 2023-03-01 criteria provided, single submitter clinical testing BBS1: PM2, PM3, PP3
PreventionGenetics, part of Exact Sciences RCV003425932 SCV004118367 uncertain significance BBS1-related condition 2023-09-20 criteria provided, single submitter clinical testing The BBS1 c.1676G>A variant is predicted to result in the amino acid substitution p.Gly559Asp. This variant was reported in the heterozygous state in two individuals with clinical features of Meckel syndrome (Karmous-Benailly et al. 2005. PubMed ID: 15666242; Davis et al. 2011. PubMed ID: 21258341). This variant is reported in 0.13% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-66299194-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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