ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)

gnomAD frequency: 0.00008  dbSNP: rs367949127
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208673 SCV001380076 uncertain significance Joubert syndrome 21 2022-03-31 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 989 of the CSPP1 protein (p.Arg989Gln). This variant is present in population databases (rs367949127, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of Meckel-Gruber syndrome (PMID: 24360803). ClinVar contains an entry for this variant (Variation ID: 939297). 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: "Deleterious"; PolyPhen-2: "Probably 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.
GeneDx RCV001799743 SCV002043887 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 24360808, 24360803)

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