ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.514A>G (p.Ile172Val)

gnomAD frequency: 0.00063  dbSNP: rs145265395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515003 SCV000610891 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001245807 SCV001419118 uncertain significance Bardet-Biedl syndrome 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 172 of the BBS4 protein (p.Ile172Val). This variant is present in population databases (rs145265395, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 445986). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BBS4 protein function with a negative predictive value of 80%. 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 RCV005010464 SCV005630881 uncertain significance Bardet-Biedl syndrome 4 2024-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915439 SCV004733631 likely benign BBS4-related disorder 2020-05-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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