ClinVar Miner

Submissions for variant NM_002076.4(GNS):c.638del (p.Leu213fs)

dbSNP: rs2136247658
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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 RCV001389572 SCV001590967 pathogenic Mucopolysaccharidosis, MPS-III-D 2020-08-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with GNS-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu213Trpfs*15) in the GNS gene. It is expected to result in an absent or disrupted protein product.

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