ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)

gnomAD frequency: 0.00002  dbSNP: rs768699088
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068841 SCV001233974 uncertain significance Bardet-Biedl syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 38 of the BBS2 protein (p.Gly38Ser). This variant is present in population databases (rs768699088, gnomAD 0.01%). 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: 862167). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002489706 SCV002793976 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-05-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003413890 SCV004118303 uncertain significance BBS2-related condition 2023-05-10 criteria provided, single submitter clinical testing The BBS2 c.112G>A variant is predicted to result in the amino acid substitution p.Gly38Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.011% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56553663-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001273918 SCV001457512 uncertain significance Bardet-Biedl syndrome 2 2020-01-17 no assertion criteria provided clinical testing

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