ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=)

gnomAD frequency: 0.01428  dbSNP: rs11111008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082837 SCV001106244 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001112782 SCV001270478 benign Pseudo-Hurler polydystrophy 2018-01-12 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 Laboratory Services, Illumina RCV001112783 SCV001270479 benign Mucolipidosis type II 2018-01-12 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000675291 SCV000800953 benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV001112783 SCV002088590 likely benign Mucolipidosis type II 2019-12-04 no assertion criteria provided clinical testing

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