ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.694dup (p.Ala232fs)

dbSNP: rs1553611025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001048896 SCV001212925 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala232Glyfs*28) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552535). This variant has not been reported in the literature in individuals affected with GLB1-related conditions.
Counsyl RCV000667817 SCV000792322 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-06-14 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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