ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) (rs377283762)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669500 SCV000794257 uncertain significance Alstrom syndrome 2017-09-20 criteria provided, single submitter clinical testing
GeneDx RCV001558552 SCV001780523 uncertain significance not provided 2021-05-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on 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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