ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) (rs780724173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666573 SCV000790883 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV001049111 SCV001213145 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-02-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 441 of the GLB1 protein (p.Asp441Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs780724173, ExAC 0.001%). This variant has been observed in several individuals with clinical and biochemical features of GLB1-related disease (PMID: 17664528, 16941474, 21497194). ClinVar contains an entry for this variant (Variation ID: 551496). This variant has been reported result in the loss of B-galactosidase enzymatic activity of the GLB1 protein (PMID: 17664528). For these reasons, this variant has been classified as Pathogenic.

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