ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) (rs104894641)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005416 SCV000789552 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-02-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790770 SCV000232481 pathogenic not provided 2013-12-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000005416 SCV000918204 pathogenic Mucopolysaccharidosis, MPS-III-A 2017-09-11 criteria provided, single submitter clinical testing Variant summary: The SGSH c.1298G>A (p.Arg433Gln) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1/120022 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic SGSH variant (0.0032275). The variant has been reported in numerous affected individuals in the literature in both homozygous and compound heterozygous states. Patient fibroblasts as well as transfected cells showed low to non-detectable enzyme activity (Montfort_2004). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000005416 SCV000025598 pathogenic Mucopolysaccharidosis, MPS-III-A 2003-04-01 no assertion criteria provided literature only

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