ClinVar Miner

Submissions for variant NM_000404.2(GLB1):c.245C>T (rs72555393)

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Total submissions: 6
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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 2020-09-02 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, University of Leipzig Medical Center RCV001262449 SCV001440328 uncertain significance GM1 gangliosidosis type 2 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
GeneDx RCV001559063 SCV001781130 pathogenic not provided 2021-01-08 criteria provided, single submitter clinical testing Published functional studies demonstrate decreased enzyme activity (Chakraborty et al., 1994); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 8198123, 33240792, 6791574, 21520340, 31628766, 31937438, 31761138, 25326637, 20175788, 24024947, 19472408, 11511921, 31367523)
OMIM RCV000000984 SCV000021134 pathogenic GM1 gangliosidosis type 3 1994-06-01 no assertion criteria provided literature only

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