Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250396 | SCV000302687 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000724696 | SCV000331867 | uncertain significance | not provided | 2015-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000525907 | SCV000626605 | likely benign | Glycogen storage disease, type II | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724696 | SCV000716344 | likely benign | not provided | 2020-09-28 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18425781, 31301153) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250396 | SCV000919371 | uncertain significance | not specified | 2018-05-25 | criteria provided, single submitter | clinical testing | Variant summary: GAA c.32G>A (p.Arg11Gln) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00014 in 275638 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in GAA causing Glycogen Storage Disease, Type 2 (Pompe Disease) (0.00014 vs 0.0042), allowing no conclusion about variant significance. The variant, c.32G>A, has been reported in the literature in individuals affected with Glycogen Storage Disease, Type 2 (Pompe Disease)(Kroos_2008) but was classified as not pathogenic by the authors. These report(s) do not provide unequivocal conclusions about association of the variant with Glycogen Storage Disease, Type 2 (Pompe Disease). At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant (Kroos_2008). Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign x1, uncertain significance 2x). Based on the evidence outlined above, the variant was classified as uncertain significance. |
Genome- |
RCV000525907 | SCV001810613 | uncertain significance | Glycogen storage disease, type II | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000724696 | SCV003828513 | uncertain significance | not provided | 2023-09-07 | criteria provided, single submitter | clinical testing |