ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)

gnomAD frequency: 0.00012  dbSNP: rs138314289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240795 SCV001413769 uncertain significance Bardet-Biedl syndrome 2022-10-17 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 386 of the BBS2 protein (p.Thr386Met). This variant is present in population databases (rs138314289, gnomAD 0.1%). 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: 966180). 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 RCV002484320 SCV002785139 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-04-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277877 SCV001464856 likely benign Bardet-Biedl syndrome 2 2020-09-03 no assertion criteria provided clinical testing

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