ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) (rs35878526)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214189 SCV001385860 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2019-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln278*) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs35878526, ExAC 0.01%). This variant has been observed in individuals affected with mucolipidosis IIIA (PMID: 16465621). ClinVar contains an entry for this variant (Variation ID: 38433). Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000031991 SCV000054692 pathologic Mucopolysaccharidosis, MPS-III-A 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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