ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly)

dbSNP: rs1057518683
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001116706 SCV001274830 uncertain significance Legius syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Centogene AG - the Rare Disease Company RCV001116706 SCV002059803 uncertain significance Legius syndrome 2018-02-20 criteria provided, single submitter clinical testing
GeneDx RCV003236867 SCV003935614 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 17704776, 25883013)

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