ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.239C>T (p.Ala80Val)

dbSNP: rs1964679008
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348618 SCV001542925 uncertain significance Bardet-Biedl syndrome 2021-05-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 80 of the BBS2 protein (p.Ala80Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BBS2-related conditions.

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