ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)

gnomAD frequency: 0.00002  dbSNP: rs145757541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362277 SCV001558286 uncertain significance Bardet-Biedl syndrome 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 445 of the BBS2 protein (p.Ile445Val). This variant is present in population databases (rs145757541, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1053873). 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 C15". The valine 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 RCV002476651 SCV002776468 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-05 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003405606 SCV004113329 uncertain significance BBS2-related condition 2023-04-27 criteria provided, single submitter clinical testing The BBS2 c.1333A>G variant is predicted to result in the amino acid substitution p.Ile445Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56534830-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001831228 SCV002089278 uncertain significance Bardet-Biedl syndrome 2 2020-12-09 no assertion criteria provided clinical testing

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