ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.320A>G (p.Asn107Ser)

gnomAD frequency: 0.00004  dbSNP: rs1292834581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906834 SCV002187097 uncertain significance Bardet-Biedl syndrome 2022-09-13 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 107 of the BBS2 protein (p.Asn107Ser). This variant is present in population databases (no rsID available, gnomAD 0.004%). 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: 1406160). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002484417 SCV002777508 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-10 criteria provided, single submitter clinical testing

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