ClinVar Miner

Submissions for variant NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) (rs201629827)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608030 SCV000720343 likely benign not specified 2017-06-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714686 SCV000845407 likely benign Joubert syndrome 21 2018-08-07 criteria provided, single submitter clinical testing
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735303 SCV000854456 uncertain significance Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis criteria provided, single submitter clinical testing
Invitae RCV000714686 SCV000954041 uncertain significance Joubert syndrome 21 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1094 of the CSPP1 protein (p.Glu1094Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs201629827, ExAC 0.02%). This variant has not been reported in the literature in individuals with CSPP1-related disease. ClinVar contains an entry for this variant (Variation ID: 510229). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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