ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)

gnomAD frequency: 0.00003  dbSNP: rs761864599
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206888 SCV001378222 uncertain significance Bardet-Biedl syndrome 2022-10-18 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 408 of the BBS2 protein (p.Asn408Ser). This variant is present in population databases (rs761864599, 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: 937791). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 RCV002497710 SCV002812302 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-08-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003405392 SCV004114747 uncertain significance BBS2-related condition 2023-06-16 criteria provided, single submitter clinical testing The BBS2 c.1223A>G variant is predicted to result in the amino acid substitution p.Asn408Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0044% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56535267-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001836139 SCV002089280 uncertain significance Bardet-Biedl syndrome 2 2020-03-25 no assertion criteria provided clinical testing

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