ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001348771 SCV001543086 uncertain significance Bardet-Biedl syndrome 2020-10-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 558 of the BBS2 protein (p.Thr558Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs370581600, ExAC 0.002%). This variant has been observed to be homozygous or hemizygous in an individual who was not affected with Bardet-Biedl syndrome (PMID: 12016587). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BBS2 protein function (PMID: 20498079). 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.

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