ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)

gnomAD frequency: 0.00001  dbSNP: rs398123433
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079027 SCV000110896 uncertain significance not provided 2013-11-14 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001543346 SCV001547993 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research In vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); absent from gnomAD v2.1.1 (PM2_moderate); cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1_supporting); multiple lines of computational evidence support a deleterious effect on the gene (PP3_supporting)
Genome-Nilou Lab RCV001543346 SCV002044975 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
GeneReviews RCV001543346 SCV001761898 not provided Mucopolysaccharidosis, MPS-IV-A no assertion provided literature only

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