ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1264C>T (p.Arg422Trp)

gnomAD frequency: 0.00003  dbSNP: rs375746803
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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) RCV000152826 SCV000202222 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Counsyl RCV000671479 SCV000796455 uncertain significance Bardet-Biedl syndrome 10 2017-12-14 criteria provided, single submitter clinical testing
Invitae RCV001850085 SCV002187750 uncertain significance Bardet-Biedl syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 422 of the BBS10 protein (p.Arg422Trp). This variant is present in population databases (rs375746803, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS10-related conditions. ClinVar contains an entry for this variant (Variation ID: 166722). 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 BBS10 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 RCV000671479 SCV002790009 uncertain significance Bardet-Biedl syndrome 10 2022-04-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003422042 SCV004118300 uncertain significance BBS10-related condition 2023-02-21 criteria provided, single submitter clinical testing The BBS10 c.1264C>T variant is predicted to result in the amino acid substitution p.Arg422Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-76740501-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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