ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.75+1G>C

gnomAD frequency: 0.00001  dbSNP: rs398123358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173120 SCV000224208 pathogenic not provided 2012-08-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000778694 SCV000915045 uncertain significance GM1 gangliosidosis 2017-07-13 criteria provided, single submitter clinical testing The GLB1 c.75+1G>C variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for GLB1-related disorders.

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