ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.962C>T (p.Thr321Met)

gnomAD frequency: 0.00004  dbSNP: rs758548498
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243382 SCV001416536 uncertain significance Bardet-Biedl syndrome 2022-09-28 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 321 of the BBS2 protein (p.Thr321Met). This variant is present in population databases (rs758548498, gnomAD 0.007%). 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: 968281). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt 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 RCV002484343 SCV002781071 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-07-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003365284 SCV004073482 likely benign Inborn genetic diseases 2023-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004538507 SCV004720373 uncertain significance BBS2-related disorder 2023-12-27 criteria provided, single submitter clinical testing The BBS2 c.962C>T variant is predicted to result in the amino acid substitution p.Thr321Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001829026 SCV002089285 uncertain significance Bardet-Biedl syndrome 2 2020-02-21 no assertion criteria provided clinical testing

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