ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.851A>G (p.Asn284Ser)

gnomAD frequency: 0.00003  dbSNP: rs377749641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362900 SCV001558952 uncertain significance Bardet-Biedl syndrome 2022-07-26 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 284 of the BBS2 protein (p.Asn284Ser). This variant is present in population databases (rs377749641, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054407). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Natera, Inc. RCV001826023 SCV002089291 uncertain significance Bardet-Biedl syndrome 2 2020-01-24 no assertion criteria provided clinical testing

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