ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) (rs4764655)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082188 SCV000114134 benign not specified 2014-05-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082188 SCV000314275 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313186 SCV000375463 benign Mucolipidosis type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000365527 SCV000375464 benign Pseudo-Hurler polydystrophy 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Integrated Genetics/Laboratory Corporation of America RCV000588036 SCV000699474 benign not provided 2016-10-10 criteria provided, single submitter clinical testing Variant summary: The GNPTAB c.18G>A (p.Leu6Leu) variant causes a synonymous change involving a non-conserved nucleotide with 4/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may alter ESE binding. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 13109/114946 control chromosomes (1/8, 763 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic GNPTAB variant of 1/447, suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/databases cite the variant as Benign. Therefore, the variant of interest has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588036 SCV000800963 benign not provided 2015-10-20 no assertion criteria provided clinical testing

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