ClinVar Miner

Submissions for variant NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) (rs1602902855)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000984484 SCV001132530 uncertain significance Arts syndrome 2018-11-15 criteria provided, single submitter research The hemizygous p.Pro141Leu variant in PRPS1 was identified by our study in one individual with Arts Syndrome. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Pro141Leu variant is uncertain.

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