ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1993T>C (p.Ser665Pro)

dbSNP: rs1597780746
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001265 SCV001158436 uncertain significance not specified 2019-05-26 criteria provided, single submitter clinical testing The JUP c.1993T>C; p.Ser665Pro variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 665 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, given the lack of clinical and functional data, the significance of the p.Ser665Pro variant is uncertain at this time.
GeneDx RCV001772183 SCV002003380 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 811420; Landrum et al., 2016)

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