ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.545C>G (p.Thr182Arg) (rs758577863)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000850228 SCV000965585 uncertain significance Infantile GM1 gangliosidosis 2019-06-21 criteria provided, single submitter clinical testing Heterozygous variant c.545C>G (p.Thr182Arg ) in exon-5 has been observed in GLB1 gene. The proband, born of a non-consanguineous marriage, presented with indication of reduced activity of beta-galactosidase enzyme. The patient in our clinical analysis was observed with the said variant in an autosomal recessive mode of inheritance. Parents are heterozygous for the same variant. This variant has not been reported previously in the literature, in 1000 Genomes or ExAC databases and is predicted damaging by SIFT, Polyphen2 and FATHMM. Hence it is classified as variant of unknown significance according to ACMG guidelines.

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