ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.821A>G (p.Asn274Ser)

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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 RCV002780131 SCV003025233 uncertain significance Bardet-Biedl syndrome 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 274 of the BBS4 protein (p.Asn274Ser). This variant is present in population databases (rs780535373, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. 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: "Probably Damaging"; 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.
PreventionGenetics, part of Exact Sciences RCV003395515 SCV004119475 uncertain significance BBS4-related disorder 2023-05-30 criteria provided, single submitter clinical testing The BBS4 c.821A>G variant is predicted to result in the amino acid substitution p.Asn274Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-73023755-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005002881 SCV005630893 uncertain significance Bardet-Biedl syndrome 4 2024-05-21 criteria provided, single submitter clinical testing

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