ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1462G>A (p.Val488Met)

gnomAD frequency: 0.00140  dbSNP: rs78127134
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174484 SCV000225792 benign not specified 2015-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989652 SCV000399623 benign Mucopolysaccharidosis, MPS-IV-A 2018-03-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000989652 SCV001114771 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000989652 SCV001140184 benign Mucopolysaccharidosis, MPS-IV-A 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000989652 SCV001547974 benign Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Allele frequency is >5% in gnomAD v2.1.1 (BA1_stand-alone); allele frequency is greater than expected for disorder (BS1_strong); multiple lines of computational evidence suggest no impact on gene or gene product (BP4_supporting)
Genome-Nilou Lab RCV000989652 SCV002045046 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000989652 SCV002813076 benign Mucopolysaccharidosis, MPS-IV-A 2022-04-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709347 SCV005252571 benign not provided criteria provided, single submitter not provided

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