ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.253C>A (p.Pro85Thr) (rs1575472038)

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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 RCV000844884 SCV000926258 uncertain significance GM1 gangliosidosis type 2 2019-05-07 criteria provided, single submitter clinical testing Heterozygous variant c.253C>A (p.Pro85Thr) in exon-3 has been observed in GLB1 gene. The proband, born of a non-consanguineous marriage, presented with clinical indication of regression of milestones, moderate mental retardation, seizures, hypotonia and myoclonal jerks. MRI was suggestive of cerebral atrophy. The patient in our clinical analysis was diagnosed with the said variant in an autosomal recessive mode of inheritance. The variant is not reported in the 1000 genomes and ExAC databases. In-Silico prediction of the variant is probably damaging by PolyPhen-2 (HumDiv) and damaging by SIFT, LRT and MutationTaster2. In summary, the said variant meets our criteria to be classified as uncertain significance based on the mode of inheritance, in silico prediction, allele frequency in population databases and lack of segregation study.

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