ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln)

gnomAD frequency: 0.00001  dbSNP: rs1278932190
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001295512 SCV001484437 uncertain significance Bardet-Biedl syndrome 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 506 of the BBS2 protein (p.Arg506Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. 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 disruptive. 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.
Natera, Inc. RCV001835391 SCV002089271 uncertain significance Bardet-Biedl syndrome 2 2021-10-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733234 SCV005355253 uncertain significance BBS2-related disorder 2024-04-09 no assertion criteria provided clinical testing The BBS2 c.1517G>A variant is predicted to result in the amino acid substitution p.Arg506Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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