Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV001095190 | SCV000464775 | benign | Sialic acid storage disease, severe infantile type | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Illumina Laboratory Services, |
RCV000285760 | SCV000464776 | benign | Salla disease | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Counsyl | RCV000285760 | SCV000789959 | likely benign | Salla disease | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001201293 | SCV001372422 | benign | not specified | 2020-06-08 | criteria provided, single submitter | clinical testing | Variant summary: SLC17A5 c.1111+7G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.022 in 251238 control chromosomes in the gnomAD database, including 106 homozygotes. The observed variant frequency is approximately 9 fold of the estimated maximal expected allele frequency for a pathogenic variant in SLC17A5 causing Sialic Acid Storage Disorder phenotype (0.0024), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.1111+7G>A in individuals affected with Sialic Acid Storage Disorder and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV000285760 | SCV001728614 | benign | Salla disease | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000285760 | SCV001762889 | benign | Salla disease | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001095190 | SCV001762890 | benign | Sialic acid storage disease, severe infantile type | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000675824 | SCV001833564 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675824 | SCV000801546 | likely benign | not provided | 2017-04-19 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000285760 | SCV002076727 | benign | Salla disease | 2019-11-26 | no assertion criteria provided | clinical testing |