ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)

dbSNP: rs376115616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068934 SCV001234071 uncertain significance Bardet-Biedl syndrome 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 485 of the BBS2 protein (p.Ala485Val). This variant is present in population databases (rs376115616, gnomAD 0.05%). 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: 862248). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV005021418 SCV005644014 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828512 SCV002089274 uncertain significance Bardet-Biedl syndrome 2 2020-01-31 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004528371 SCV004109421 uncertain significance BBS2-related disorder 2024-05-28 no assertion criteria provided clinical testing The BBS2 c.1454C>T variant is predicted to result in the amino acid substitution p.Ala485Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.054% of alleles in individuals of Latino descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that this variant may be benign, 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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