ClinVar Miner

Submissions for variant NC_000017.11:g.80215136_80215141del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005121880 SCV005746403 pathogenic Mucopolysaccharidosis, MPS-III-A 2024-03-07 criteria provided, single submitter clinical testing This variant, c.250_255del, results in the deletion of 2 amino acid(s) of the SGSH protein (p.His84_Gln85del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757278903, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with SGSH-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the SGSH protein in which other variant(s) (p.Gln85Arg) have been determined to be pathogenic (PMID: 15542396). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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