ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)

gnomAD frequency: 0.00016  dbSNP: rs141255069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045943 SCV001209820 uncertain significance Bardet-Biedl syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 370 of the BBS1 protein (p.Pro370Leu). This variant is present in population databases (rs141255069, gnomAD 0.06%). 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: 843339). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV001272383 SCV002787144 uncertain significance Bardet-Biedl syndrome 1 2022-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272383 SCV001454319 uncertain significance Bardet-Biedl syndrome 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938414 SCV004749834 uncertain significance BBS1-related disorder 2024-09-11 no assertion criteria provided clinical testing The BBS1 c.1109C>T variant is predicted to result in the amino acid substitution p.Pro370Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.060% of alleles in individuals of African descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that this variant may be benign, the clinical significance of this variant is classified as uncertain at this time due to the absence of conclusive functional and genetic evidence.

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