ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)

dbSNP: rs374717800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340212 SCV001534011 uncertain significance Joubert syndrome 21 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 1009 of the CSPP1 protein (p.Gln1009Lys). This variant is present in population databases (rs374717800, gnomAD 0.03%). 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: 1037109). 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.
Ambry Genetics RCV004978362 SCV005565137 uncertain significance Inborn genetic diseases 2024-11-15 criteria provided, single submitter clinical testing The c.3025C>A (p.Q1009K) alteration is located in exon 24 (coding exon 24) of the CSPP1 gene. This alteration results from a C to A substitution at nucleotide position 3025, causing the glutamine (Q) at amino acid position 1009 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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