Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000908301 | SCV001053054 | likely benign | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-12-09 | criteria provided, single submitter | clinical testing | |
| Illumina Laboratory Services, |
RCV000908301 | SCV001331417 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 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. |
| Mayo Clinic Laboratories, |
RCV003480892 | SCV004224255 | uncertain significance | not provided | 2022-10-11 | criteria provided, single submitter | clinical testing | BS1 |
| ARUP Laboratories, |
RCV000908301 | SCV005879302 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-05-15 | criteria provided, single submitter | clinical testing | The GALT c.919T>A; p.Ser307Thr variant (rs61735983), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 733071). This variant is found in the African population with an allele frequency of 0.40% (100/24,954 alleles) in the Genome Aggregation Database (v2.1.1). Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.592). Due to limited information, the clinical significance of this variant is uncertain at this time. |
| Natera, |
RCV001276335 | SCV001462507 | uncertain significance | Galactosemia | 2017-05-09 | no assertion criteria provided | clinical testing |