ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.1770del (p.Phe590fs) (rs193922711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029407 SCV000052055 likely pathogenic Bardet-Biedl syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000029407 SCV001230723 pathogenic Bardet-Biedl syndrome 2019-11-29 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs193922711, ExAC 0.009%). This variant has not been reported in the literature in individuals with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 35755). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
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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