ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) (rs752374933)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668529 SCV000793148 uncertain significance Mucopolysaccharidosis, MPS-III-C 2017-07-31 criteria provided, single submitter clinical testing
Invitae RCV001213211 SCV001384832 uncertain significance Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2019-11-15 criteria provided, single submitter clinical testing This variant, c.981_983del, results in the deletion of 1 amino acid(s) of the HGSNAT protein (p.Ile328del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752374933, ExAC 0.003%). This variant has not been reported in the literature in individuals with HGSNAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 553145). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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