ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)

gnomAD frequency: 0.00019  dbSNP: rs147397090
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064314 SCV001229207 uncertain significance Bardet-Biedl syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 643 of the BBS2 protein (p.Arg643Cys). This variant is present in population databases (rs147397090, gnomAD 0.08%). 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: 858439). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BBS2 protein function. 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 RCV002482080 SCV002778190 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002554462 SCV003750012 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.1927C>T (p.R643C) alteration is located in exon 16 (coding exon 16) of the BBS2 gene. This alteration results from a C to T substitution at nucleotide position 1927, causing the arginine (R) at amino acid position 643 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003405283 SCV004115233 uncertain significance BBS2-related condition 2023-02-06 criteria provided, single submitter clinical testing The BBS2 c.1927C>T variant is predicted to result in the amino acid substitution p.Arg643Cys. To our knowledge, this variant has not been reported in the literature, although an alternate substitution of the same amino acid (p.Arg643His) has been reported in a patient with a clinical diagnosis of Bardet-Biedl syndrome (Fauser et al. 2003. PubMed ID: 12920096). The c.1927C>T (p.Arg643Cys) variant is reported in 0.084% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56519634-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. RCV001827414 SCV002089257 uncertain significance Bardet-Biedl syndrome 2 2019-11-11 no assertion criteria provided clinical testing

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