ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.1517T>C (p.Met506Thr)

gnomAD frequency: 0.00001  dbSNP: rs200788672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231500 SCV001404026 uncertain significance Bardet-Biedl syndrome 2022-10-28 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 506 of the BBS7 protein (p.Met506Thr). This variant is present in population databases (rs200788672, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. ClinVar contains an entry for this variant (Variation ID: 958348). 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 BBS7 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 RCV002497790 SCV002777730 uncertain significance Bardet-Biedl syndrome 7 2022-02-24 criteria provided, single submitter clinical testing

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