ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.416C>T (p.Thr139Met) (rs775112689)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666794 SCV000791150 uncertain significance Mucopolysaccharidosis, MPS-III-A 2017-05-04 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001293360 SCV001481815 likely pathogenic Intellectual disability 2021-02-25 criteria provided, single submitter clinical testing The variant chr17-78188504-G-A, SGSH(NM_000199.5):c.416C>T,p.(Thr139Met) was identified in an individual with NDD. Inheritance was not applicable (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PM2_Supporting, PM3_Strong, PP3_Supporting, PP4_Supporting). This variant was identified in a compound heterozygous state with the variantNM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) ( Variation ID: 983123).
Section for Clinical Neurogenetics,University of Tübingen RCV000666794 SCV001156105 pathogenic Mucopolysaccharidosis, MPS-III-A 2019-08-01 no assertion criteria provided research

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