ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1443C>T (p.Pro481=)

gnomAD frequency: 0.00336  dbSNP: rs147536058
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000961078 SCV000399624 likely benign Mucopolysaccharidosis, MPS-IV-A 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000961078 SCV001108109 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000961078 SCV002045047 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805020 SCV002050903 benign not specified 2021-12-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422276 SCV004138192 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing GALNS: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003422276 SCV005219611 likely benign not provided criteria provided, single submitter not provided

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