ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.985C>G (p.Pro329Ala)

dbSNP: rs751758378
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758437 SCV001995357 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this 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.
Baylor Genetics RCV003147645 SCV003836094 uncertain significance ALG3-congenital disorder of glycosylation 2022-01-19 criteria provided, single submitter clinical testing

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