ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr)

gnomAD frequency: 0.00001  dbSNP: rs1162661826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867453 SCV002136062 uncertain significance Joubert syndrome 21 2021-09-18 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 950 of the CSPP1 protein (p.Met950Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CSPP1-related conditions. 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: "Benign"; 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.
Ambry Genetics RCV004040438 SCV004852153 uncertain significance Inborn genetic diseases 2024-01-22 criteria provided, single submitter clinical testing The c.2849T>C (p.M950T) alteration is located in exon 23 (coding exon 23) of the CSPP1 gene. This alteration results from a T to C substitution at nucleotide position 2849, causing the methionine (M) at amino acid position 950 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001867453 SCV005374401 uncertain significance Joubert syndrome 21 2024-09-22 criteria provided, single submitter clinical testing
GeneDx RCV004774487 SCV005385269 uncertain significance not provided 2024-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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