Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000624609 | SCV000741500 | pathogenic | Inborn genetic diseases | 2016-04-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669063 | SCV000793764 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-08-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001068811 | SCV001233943 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2019-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 82 of the GLB1 protein (p.Thr82Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs72555393, ExAC 0.01%). This variant has been observed to segregate with GM1-gangliosidosis in a family and has also been observed in several individuals affected with GM1-gangliosidosis (PMID: 25326637, 21520340,8198123, 20175788, 11511921). ClinVar contains an entry for this variant (Variation ID: 935). This variant has been reported to affect GLB1 protein function (PMID: 8198123). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV001262449 | SCV001440328 | uncertain significance | GM1 gangliosidosis type 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous. |
OMIM | RCV000000984 | SCV000021134 | pathogenic | GM1 gangliosidosis type 3 | 1994-06-01 | no assertion criteria provided | literature only |