ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) (rs104894640)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005424 SCV000790783 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078349 SCV000232480 pathogenic not provided 2013-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000078349 SCV000582578 pathogenic not provided 2015-09-03 criteria provided, single submitter clinical testing The E369K variant in the SGSH gene has been reported previously in association with mucopolysaccharidosis IIIA (MPS IIIA) (Di Natale et al., 1998; Weber et al., 1997). Two individuals who were compound heterozygous for E369K and a different variant were reported to have a mild-intermediate phenotype (Di Natale et al., 1998; Esposito et al., 2000). In comparison with the wild type, E369K yielded similar molecular size and stability on western blot with the authors predicting the variant does not cause a dramatic change to the protein structure and function (Esposito et al., 2000). Therefore, we interpret E369K as a pathogenic variant.
OMIM RCV000005424 SCV000025606 pathogenic Mucopolysaccharidosis, MPS-III-A 2003-04-01 no assertion criteria provided literature only

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