ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)

gnomAD frequency: 0.00004  dbSNP: rs759253107
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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 RCV000472989 SCV000553780 uncertain significance Bardet-Biedl syndrome 2022-04-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 146 of the BBS1 protein (p.Arg146Gln). This variant is present in population databases (rs759253107, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 412286). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Ambry Genetics RCV002525625 SCV003730962 likely benign Inborn genetic diseases 2021-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Dept Of Ophthalmology, Nagoya University RCV003889901 SCV004707603 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001828486 SCV002094725 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004742430 SCV005354149 uncertain significance BBS1-related disorder 2024-04-03 no assertion criteria provided clinical testing The BBS1 c.437G>A variant is predicted to result in the amino acid substitution p.Arg146Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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