ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)

dbSNP: rs765494351
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340458 SCV001534267 uncertain significance Bardet-Biedl syndrome 2021-12-01 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 336 of the BBS1 protein (p.Leu336Val). This variant is present in population databases (rs765494351, gnomAD 0.0009%). 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: 1037324). 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 tolerated. 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.
Natera, Inc. RCV001830425 SCV002094750 uncertain significance Bardet-Biedl syndrome 1 2020-10-05 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003953676 SCV004772533 uncertain significance BBS1-related disorder 2024-05-14 no assertion criteria provided clinical testing The BBS1 c.1006C>G variant is predicted to result in the amino acid substitution p.Leu336Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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