ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.2021G>A (p.Arg674His)

gnomAD frequency: 0.00002  dbSNP: rs766952842
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175981 SCV000227561 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Invitae RCV001238784 SCV001411613 uncertain significance Bardet-Biedl syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 674 of the BBS12 protein (p.Arg674His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs766952842, ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 195414). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV001826888 SCV002790065 uncertain significance Bardet-Biedl syndrome 12 2021-11-12 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003430727 SCV004116964 uncertain significance BBS12-related condition 2023-02-20 criteria provided, single submitter clinical testing The BBS12 c.2021G>A variant is predicted to result in the amino acid substitution p.Arg674His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0055% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/4-123665068-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001826888 SCV002084746 uncertain significance Bardet-Biedl syndrome 12 2019-10-28 no assertion criteria provided clinical testing

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