ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.3G>A (p.Met1Ile)

dbSNP: rs780109160
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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 RCV002571631 SCV002822855 likely pathogenic Infantile GM1 gangliosidosis criteria provided, single submitter clinical testing The heterozygous missense variation in exon 1 of GLB1 gene that results in the amino acid substitution to Isoleucine for Methionine at codon of 1 was detected. The variant c.3G>A (p.Met1Ile) has not been reported in 1000 genome and has a MAF of 0.0004% in the gnomAD database. The insilico prediction of the variant is disease causing by MutationTaster and SIFT.

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