Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513515 | SCV000608711 | uncertain significance | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | |
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, |
RCV001849184 | SCV001960866 | uncertain significance | Spinocerebellar ataxia type 40 | 2021-07-22 | no assertion criteria provided | research | |
Diagnostic Laboratory, |
RCV000513515 | SCV001963179 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000513515 | SCV001965933 | uncertain significance | not provided | no assertion criteria provided | clinical testing |