ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) (rs151296605)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000314283 SCV000336713 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Invitae RCV001087801 SCV000629965 benign Mucopolysaccharidosis, MPS-IV-A 2020-11-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001087801 SCV001277428 benign Mucopolysaccharidosis, MPS-IV-A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova RCV001087801 SCV001547967 likely benign Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation In vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); 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)
GeneDx RCV000675526 SCV001837536 benign not provided 2020-02-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25545067)
Mayo Clinic Laboratories, Mayo Clinic RCV000675526 SCV000801217 uncertain significance not provided 2017-03-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000314283 SCV001739916 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000675526 SCV001799953 likely benign not provided no assertion criteria provided clinical testing

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