ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)

gnomAD frequency: 0.00006  dbSNP: rs369878286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598282 SCV000708154 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV001247399 SCV001420817 uncertain significance Bardet-Biedl syndrome 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 379 of the BBS12 protein (p.Lys379Glu). This variant is present in population databases (rs369878286, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 501682). 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. 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 RCV001835871 SCV002788773 uncertain significance Bardet-Biedl syndrome 12 2022-04-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411441 SCV004114822 uncertain significance BBS12-related condition 2024-01-03 criteria provided, single submitter clinical testing The BBS12 c.1135A>G variant is predicted to result in the amino acid substitution p.Lys379Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.015% 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. RCV001835871 SCV002082499 uncertain significance Bardet-Biedl syndrome 12 2019-10-28 no assertion criteria provided clinical testing

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