ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs144680278
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239677 SCV001412569 uncertain significance Bardet-Biedl syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 141 of the BBS2 protein (p.Asn141Ser). This variant is present in population databases (rs144680278, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 965274). 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.
Genome-Nilou Lab RCV001559167 SCV001781257 uncertain significance Bardet-Biedl syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559168 SCV001781258 uncertain significance Retinitis pigmentosa 74 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491788 SCV002778000 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001559167 SCV002089305 uncertain significance Bardet-Biedl syndrome 2 2020-01-24 no assertion criteria provided clinical testing

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