ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) (rs778700089)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668601 SCV000793230 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679994 SCV000807431 pathogenic GM1 gangliosidosis type 2 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory homozygous in a 14-year-old female with regression starting at 2y, non-ambulatory, nonverbal, epilepsy, dysphagia, cerebellar atrophy, ataxia, spasticity, microcephaly, joint contractures, vision impairment
Invitae RCV001228044 SCV001400427 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-09-17 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 149 of the GLB1 protein (p.Ser149Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs778700089, ExAC 0.01%). This variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 19472408, 29451896, 30267299, 30675867). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 553205). This variant has been reported to affect GLB1 protein function (PMID: 19472408). For these reasons, this variant has been classified as Pathogenic.

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