ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) (rs9894254)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000601426 SCV000745246 benign Mucopolysaccharidosis, MPS-III-A 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601426 SCV000733738 benign Mucopolysaccharidosis, MPS-III-A no assertion criteria provided clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078348 SCV000110194 benign not specified 2013-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000078348 SCV000730046 benign not specified 2017-11-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000265324 SCV000407351 likely benign Sanfilippo syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589061 SCV000695954 benign not provided 2016-08-22 criteria provided, single submitter clinical testing Variant summary: The SGSH c.1081G>A (p.Val361Ile) variant causes a missense change involving a conserved nucleotide with 3/3 in silico tools (SNPs&GO and MutationTaster not captured here due to low reliability index and p-value, respectively) predict a benign outcome for this variant. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 6457/120406 (1/18, 258 homozygoes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic SGSH variant of 1/309 (0.0032275), suggesting this variant is likely a benign polymorphism. A reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589061 SCV000801900 benign not provided 2017-03-16 no assertion criteria provided clinical testing
PreventionGenetics RCV000078348 SCV000302949 benign not specified criteria provided, single submitter clinical testing

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