ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.86C>T (p.Pro29Leu)

gnomAD frequency: 0.00002  dbSNP: rs771211831
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000666462 SCV000398075 uncertain significance Bardet-Biedl syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Counsyl RCV000666462 SCV000790759 uncertain significance Bardet-Biedl syndrome 2 2017-04-24 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888750 SCV004705081 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004732849 SCV005361365 uncertain significance BBS2-related disorder 2024-06-29 no assertion criteria provided clinical testing The BBS2 c.86C>T variant is predicted to result in the amino acid substitution p.Pro29Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.027% of alleles in individuals of East Asian descent in gnomAD. 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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