ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.407C>T (p.Pro136Leu) (rs1575471281)

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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 RCV001009625 SCV001161669 likely pathogenic Infantile GM1 gangliosidosis 2020-01-13 criteria provided, single submitter clinical testing A homozygous missense variation in exon 4 of the GLB1 gene that results in the amino acid substitution of Leucine for Proline at codon 136 was detected. The observed variant c.407C>T (p.Pro136Leu) has not been reported in the 1000 Genomes and ExAC databases. The in silico prediction of the variant is disease causing by PolyPhen-2 , Provean, FATHMM and MutationTaster2. In summary, the variant meets our criteria to be classified as likely pathogenic.

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