ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1891G>A (p.Ala631Thr)

gnomAD frequency: 0.00001  dbSNP: rs771822557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665843 SCV000790029 uncertain significance Bardet-Biedl syndrome 2 2017-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477482 SCV002790981 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530668 SCV003443522 uncertain significance Bardet-Biedl syndrome 2022-04-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 631 of the BBS2 protein (p.Ala631Thr). This variant is present in population databases (rs771822557, gnomAD 0.006%). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21052717). ClinVar contains an entry for this variant (Variation ID: 550939). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV004527724 SCV004109802 uncertain significance BBS2-related disorder 2023-12-15 no assertion criteria provided clinical testing The BBS2 c.1891G>A variant is predicted to result in the amino acid substitution p.Ala631Thr. This variant was reported as a single heterozygous variant allele in an individual with Bardet-Biedl syndrome (Janssen et al 2011. PubMed ID: 21052717). This variant is reported in 0.0062% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56530898-C-T). 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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