Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000294078 | SCV000440819 | uncertain significance | Cranioectodermal dysplasia 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Labcorp Genetics |
RCV000294078 | SCV002342525 | likely benign | Cranioectodermal dysplasia 1 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002298575 | SCV002598980 | uncertain significance | not specified | 2022-09-30 | criteria provided, single submitter | clinical testing | Variant summary: IFT122 c.1706G>A (p.Arg569His) results in a non-conservative amino acid change in the encoded protein sequence. Two of three in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00043 in 248918 control chromosomes, predominantly at a frequency of 0.00072 within the Non-Finnish European subpopulation in the gnomAD database. To our knowledge, no occurrence of c.1706G>A in individuals affected with Cranioectodermal Dysplasia 1 and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely benign, and as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Ambry Genetics | RCV002520080 | SCV003580974 | uncertain significance | Inborn genetic diseases | 2021-10-29 | criteria provided, single submitter | clinical testing | The c.1706G>A (p.R569H) alteration is located in exon 15 (coding exon 15) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 1706, causing the arginine (R) at amino acid position 569 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |