ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.578T>C (p.Leu193Ser)

dbSNP: rs1726562977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233960 SCV001406580 uncertain significance Bardet-Biedl syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 193 of the BBS7 protein (p.Leu193Ser). 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. 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 expected to disrupt BBS7 protein function. ClinVar contains an entry for this variant (Variation ID: 960436). This variant has not been reported in the literature in individuals affected with BBS7-related conditions. This variant is not present in population databases (gnomAD no frequency).

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