ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)

gnomAD frequency: 0.00007  dbSNP: rs752648207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769319 SCV002003482 uncertain significance not provided 2020-10-19 criteria provided, single submitter clinical testing 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001868588 SCV002178722 uncertain significance Joubert syndrome 21 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 593 of the CSPP1 protein (p.Ser593Leu). This variant is present in population databases (rs752648207, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CSPP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1313368). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001868588 SCV002779445 uncertain significance Joubert syndrome 21 2022-04-04 criteria provided, single submitter clinical testing

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