ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)

dbSNP: rs763678034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670131 SCV000794948 pathogenic GNPTG-mucolipidosis 2017-10-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868240 SCV002230641 pathogenic not provided 2021-07-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with mucolipidosis III gamma (PMID: 27896079, 26935170). ClinVar contains an entry for this variant (Variation ID: 554488). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu110*) in the GNPTG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTG are known to be pathogenic (PMID: 19370764, 20301784).

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