ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1747G>T (p.Glu583Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310187 SCV002602168 likely pathogenic Bardet-Biedl syndrome 2 2021-12-17 criteria provided, single submitter clinical testing NM_031885.3(BBS2):c.1747G>T(E583*) is expected to be pathogenic in the context of Bardet-Biedl syndrome, BBS2-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in BBS2, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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