ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239677 SCV001412569 uncertain significance Bardet-Biedl syndrome 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 141 of the BBS2 protein (p.Asn141Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs144680278, ExAC 0.2%). This variant has not been reported in the literature in individuals with BBS2-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. 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.
Nilou-Genome Lab RCV001559167 SCV001781257 uncertain significance Bardet-Biedl syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001559168 SCV001781258 uncertain significance Retinitis pigmentosa 74 2021-07-14 criteria provided, single submitter clinical testing

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