ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)

dbSNP: rs540217506
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558593 SCV000636511 uncertain significance Bardet-Biedl syndrome 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 363 of the BBS1 protein (p.Leu363Pro). This variant is present in population databases (rs540217506, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of BBS1-related conditions (PMID: 10564830; Invitae). ClinVar contains an entry for this variant (Variation ID: 462951). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Illumina Laboratory Services, Illumina RCV001104149 SCV001260990 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.
GeneDx RCV001591224 SCV001816218 uncertain significance not provided 2024-11-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV001104149 SCV002787754 uncertain significance Bardet-Biedl syndrome 1 2021-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001104149 SCV002094755 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing

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