ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter) (rs567573386)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590291 SCV000699656 likely pathogenic Bardet-Biedl syndrome 2017-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622316 SCV000742127 likely pathogenic Inborn genetic diseases 2017-01-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000590291 SCV000958736 likely pathogenic Bardet-Biedl syndrome 2019-08-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS2 gene (p.Arg703*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acids of the BBS2 protein. This variant is present in population databases (rs567573386, ExAC 0.03%). This variant has been observed in combination with another BBS2 variant in an individual affected with Bardet-Biedl syndrome (PMID: 21344540). ClinVar contains an entry for this variant (Variation ID: 496478). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Counsyl RCV000667111 SCV000791510 likely pathogenic Bardet-Biedl syndrome 2 2017-05-15 no assertion criteria provided clinical testing

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