ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1770del (p.Phe590fs)

dbSNP: rs193922711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029407 SCV000052055 likely pathogenic Bardet-Biedl syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000029407 SCV001230723 pathogenic Bardet-Biedl syndrome 2023-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 35755). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is present in population databases (rs193922711, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Phe590Leufs*8) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
PreventionGenetics, part of Exact Sciences RCV004532405 SCV004113179 pathogenic BBS2-related disorder 2023-06-16 criteria provided, single submitter clinical testing The BBS2 c.1770delT variant is predicted to result in a frameshift and premature protein termination (p.Phe590Leufs*8). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56531681-CA-C). Frameshift variants in BBS2 are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV000190358 SCV004214016 pathogenic Bardet-Biedl syndrome 2 2024-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000190358 SCV000153774 pathogenic Bardet-Biedl syndrome 2 2014-05-25 no assertion criteria provided clinical testing A homozygous frameshift mutation in exon 14 of BBS2 gene.

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