ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) (rs398123244)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078350 SCV000110196 uncertain significance not provided 2013-03-12 criteria provided, single submitter clinical testing
Counsyl RCV000667990 SCV000792526 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2017-06-29 criteria provided, single submitter clinical testing
Invitae RCV000667990 SCV001232836 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-08-30 criteria provided, single submitter clinical testing This variant, c.1144_1145insAGCGCC, results in the insertion of 2 amino acid(s) to the SGSH protein (p.His381_Arg382insGlnArg), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs398123244, ExAC 0.01%). This variant has been observed in combination with another SGSH variant in several individuals affected with mucopolysaccharidosis type III (PMID: 11182930, 27590925). This variant is also known as 1156ins6 in the literature. ClinVar contains an entry for this variant (Variation ID: 92608). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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