ClinVar Miner

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

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Total submissions: 4
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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 Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
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.
OMIM RCV000000984 SCV000021134 pathogenic GM1 gangliosidosis type 3 1994-06-01 no assertion criteria provided literature only

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