ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)

gnomAD frequency: 0.00078  dbSNP: rs201940261
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513515 SCV000608711 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765186 SCV000896421 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 1; Spinocerebellar ataxia type 40 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000513515 SCV003248858 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 2009 of the CCDC88C protein (p.Pro2009Leu). This variant is present in population databases (rs201940261, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with CCDC88C-related conditions. ClinVar contains an entry for this variant (Variation ID: 444336). 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.
Ambry Genetics RCV002524960 SCV003567887 uncertain significance Inborn genetic diseases 2022-05-31 criteria provided, single submitter clinical testing The c.6026C>T (p.P2009L) alteration is located in exon 30 (coding exon 30) of the CCDC88C gene. This alteration results from a C to T substitution at nucleotide position 6026, causing the proline (P) at amino acid position 2009 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849184 SCV001960866 uncertain significance Spinocerebellar ataxia type 40 2021-07-22 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000513515 SCV001963179 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000513515 SCV001965933 uncertain significance not provided no assertion criteria provided clinical testing

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