ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)

gnomAD frequency: 0.00006  dbSNP: rs769886837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001373221 SCV001569926 uncertain significance Bardet-Biedl syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 146 of the BBS4 protein (p.Ile146Thr). This variant is present in population databases (rs769886837, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063389). 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 threonine 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 RCV002493900 SCV002790569 uncertain significance Bardet-Biedl syndrome 4 2022-05-18 criteria provided, single submitter clinical testing
New York Genome Center RCV002493900 SCV003925378 uncertain significance Bardet-Biedl syndrome 4 2022-03-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004692669 SCV005193917 uncertain significance not provided criteria provided, single submitter not provided

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