ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.581A>G (p.Asp194Gly)

gnomAD frequency: 0.00001  dbSNP: rs1325859248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056596 SCV001221046 uncertain significance Bardet-Biedl syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 194 of the BBS2 protein (p.Asp194Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Preventiongenetics, part of Exact Sciences RCV003396693 SCV004105823 uncertain significance BBS2-related condition 2023-06-16 criteria provided, single submitter clinical testing The BBS2 c.581A>G variant is predicted to result in the amino acid substitution p.Asp194Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0058% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56543900-T-C). 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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