ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.211G>A (p.Val71Ile)

dbSNP: rs1397496181
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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 RCV001346252 SCV001540436 uncertain significance Bardet-Biedl syndrome 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 71 of the BBS5 protein (p.Val71Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1042319). 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.
Fulgent Genetics, Fulgent Genetics RCV002499694 SCV002783725 uncertain significance Bardet-Biedl syndrome 5 2021-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169683 SCV003896981 likely benign Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004753292 SCV005351228 uncertain significance BBS5-related disorder 2024-08-06 no assertion criteria provided clinical testing The BBS5 c.211G>A variant is predicted to result in the amino acid substitution p.Val71Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0016% 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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