ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)

gnomAD frequency: 0.00006  dbSNP: rs755782127
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551663 SCV000636513 uncertain significance Bardet-Biedl syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 426 of the BBS1 protein (p.Asn426Ser). This variant is present in population databases (rs755782127, gnomAD 0.03%). 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: 462952). 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 serine 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.
Fulgent Genetics, Fulgent Genetics RCV001834775 SCV002787170 uncertain significance Bardet-Biedl syndrome 1 2022-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528349 SCV003694674 likely benign Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
New York Genome Center RCV001834775 SCV003925129 uncertain significance Bardet-Biedl syndrome 1 2022-02-23 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889922 SCV004707617 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001834775 SCV002094763 uncertain significance Bardet-Biedl syndrome 1 2019-10-28 no assertion criteria provided clinical testing

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