ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)

gnomAD frequency: 0.00001  dbSNP: rs565073445
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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 RCV000735938 SCV001413124 likely pathogenic Bardet-Biedl syndrome 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 22 of the BBS12 protein (p.Phe22Ser). This variant is present in population databases (rs565073445, gnomAD 0.006%). This missense change has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 30614526; Invitae). ClinVar contains an entry for this variant (Variation ID: 585191). 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 BBS12 protein function with a positive predictive value of 80%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
GeneDx RCV001779068 SCV002015821 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30614526, 31589614)
Fulgent Genetics, Fulgent Genetics RCV001825408 SCV002815794 likely pathogenic Bardet-Biedl syndrome 12 2024-04-02 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000735938 SCV000839578 pathogenic Bardet-Biedl syndrome 2018-09-15 no assertion criteria provided provider interpretation
Natera, Inc. RCV001825408 SCV002082469 uncertain significance Bardet-Biedl syndrome 12 2020-09-29 no assertion criteria provided clinical testing

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