ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)

gnomAD frequency: 0.00013  dbSNP: rs141557187
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963407 SCV001110558 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145758 SCV001306452 likely benign Alpha-N-acetylgalactosaminidase deficiency type 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000963407 SCV001306453 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV001508021 SCV001713914 uncertain significance not provided 2019-11-11 criteria provided, single submitter clinical testing

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