ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)

gnomAD frequency: 0.00001  dbSNP: rs137852896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380992 SCV001579235 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln104*) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucolipidosis type II (PMID: 16116615). ClinVar contains an entry for this variant (Variation ID: 2763). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002890 SCV000023048 pathogenic Mucolipidosis type II 2005-10-01 no assertion criteria provided literature only
GeneReviews RCV000002890 SCV000054673 pathologic Mucolipidosis type II 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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