ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.635T>C (p.Met212Thr)

gnomAD frequency: 0.00003  dbSNP: rs764600063
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054983 SCV001219347 uncertain significance Bardet-Biedl syndrome 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 212 of the BBS2 protein (p.Met212Thr). This variant is present in population databases (rs764600063, gnomAD 0.08%). This missense change has been observed in individual(s) with inherited retinal degeneration (PMID: 34906470). ClinVar contains an entry for this variant (Variation ID: 850744). 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.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376259 SCV001573338 uncertain significance Retinitis pigmentosa 74 2021-04-08 criteria provided, single submitter research The BBS2 c.635T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002489640 SCV002788434 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-12-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836095 SCV002089298 uncertain significance Bardet-Biedl syndrome 2 2020-02-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528360 SCV004107320 uncertain significance BBS2-related disorder 2024-05-12 no assertion criteria provided clinical testing The BBS2 c.635T>C variant is predicted to result in the amino acid substitution p.Met212Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.079% of alleles in individuals of Latino descent in gnomAD, which may be too common to be an unreported cause of disease. Although we suspect that this variant may be benign, 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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