ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)

gnomAD frequency: 0.00006  dbSNP: rs374765060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727453 SCV001962138 uncertain significance not provided 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001727453 SCV001999994 uncertain significance not provided 2020-10-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002538688 SCV003244387 uncertain significance Joubert syndrome 21 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 930 of the CSPP1 protein (p.Asp930Gly). This variant is present in population databases (rs374765060, gnomAD 0.006%). 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: 1299123). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Baylor Genetics RCV002538688 SCV003835657 uncertain significance Joubert syndrome 21 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040007 SCV004852152 uncertain significance Inborn genetic diseases 2024-01-12 criteria provided, single submitter clinical testing The c.2789A>G (p.D930G) alteration is located in exon 22 (coding exon 22) of the CSPP1 gene. This alteration results from a A to G substitution at nucleotide position 2789, causing the aspartic acid (D) at amino acid position 930 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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