ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3335+6T>G (rs34788341)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665095 SCV000789159 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-01-11 criteria provided, single submitter clinical testing
GeneReviews RCV000031982 SCV000054680 pathologic Mucopolysaccharidosis, MPS-III-A 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000032336 SCV000055981 pathologic I cell disease 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000665095 SCV000831566 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2017-09-28 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the GNPTAB gene. It does not directly change the encoded amino acid sequence of the GNPTAB protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs34788341, ExAC 0.009%). This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in multiple individuals and families affected with mucolipidosis IIIA (PMID: 16465621, 19617216, 20301728). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 2773). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change leads to skipping of exon 17 and results in a frameshift (PMID: 16465621). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002902 SCV000023060 pathogenic Pseudo-Hurler polydystrophy 2006-03-01 no assertion criteria provided literature only

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