ClinVar Miner

Submissions for variant NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) (rs761403504)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000625890 SCV000746468 likely pathogenic Bardet-Biedl syndrome 7 2020-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001567842 SCV001791605 uncertain significance not provided 2020-12-31 no assertion criteria provided clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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