ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2715+1G>A (rs281865031)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664616 SCV000788611 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-04-28 criteria provided, single submitter clinical testing
GeneReviews RCV000031976 SCV000054671 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000664616 SCV000933687 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2018-12-24 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the GNPTAB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs281865031, ExAC 0.01%). This variant has been observed in several individuals affected with mucolipidosis or suspected mucolipidosis (PMID: 16116615, 27662472, 21549105). ClinVar contains an entry for this variant (Variation ID: 2768). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16116615). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000031976 SCV000023054 pathogenic Pseudo-Hurler polydystrophy 2005-10-01 no assertion criteria provided literature only

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