ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1027dup (p.Leu343fs) (rs778700037)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000478433 SCV000232479 pathogenic not provided 2014-06-03 criteria provided, single submitter clinical testing
GeneDx RCV000478433 SCV000568750 pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing The c.1027dupC pathogenic variant in the SGSH gene has been reported previously in association with mucopolysaccharidosis IIIA (MPS IIIA) (Weber et al., 1997; Pollard et al., 2013). The duplication causes a frameshift starting with codon Leucine 343, changes this amino acid to a Proline residue and creates a premature Stop codon at position 159 of the new reading frame, denoted p.Leu343ProfsX159. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation.
Integrated Genetics/Laboratory Corporation of America RCV000586132 SCV000695955 pathogenic Sanfilippo syndrome 2017-02-02 criteria provided, single submitter clinical testing Variant summary: The SGSH c.1027dupC (p.Leu343Profs) variant results in a premature termination codon, predicted to cause a truncated or absent SGSH protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 7/118674 control chromosomes at a frequency of 0.000059, which does not exceed the estimated maximal expected allele frequency of a pathogenic SGSH variant (0.0032275). This variant has been reported in multiple affected individuals as compund heterozygotes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Counsyl RCV000180105 SCV000486596 pathogenic Mucopolysaccharidosis, MPS-III-A 2016-11-03 no assertion criteria provided clinical testing

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