ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1381G>A (p.Val461Met)

gnomAD frequency: 0.00007  dbSNP: rs377000980
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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 RCV001361808 SCV001557798 uncertain significance Bardet-Biedl syndrome 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 461 of the BBS2 protein (p.Val461Met). This variant is present in population databases (rs377000980, gnomAD 0.01%). This missense change has been observed in individual(s) with Bardet–Biedl syndrome (PMID: 33138063). ClinVar contains an entry for this variant (Variation ID: 1053461). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BBS2 protein function. 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 RCV002476650 SCV002781715 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831222 SCV002089277 uncertain significance Bardet-Biedl syndrome 2 2020-03-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733271 SCV005355206 uncertain significance BBS2-related disorder 2024-09-12 no assertion criteria provided clinical testing The BBS2 c.1381G>A variant is predicted to result in the amino acid substitution p.Val461Met. This variant has been reported in an individual with suspected Bardet-Biedl syndrome; however, a second possible causative variant was not detected in that individual, and the patient also carried heterozygous variants in BBS8 and BBS10 (Jeziorny et al. 2020. PubMed ID: 33138063). This variant is reported in 0.0096% of alleles in individuals of Ashkenazi Jewish 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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