ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665095 SCV000789159 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000665095 SCV000831566 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2020-10-27 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. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs34788341, ExAC 0.009%). This variant has been observed in individual(s) with mucolipdosis III alpha/beta (PMID: 16465621,19617216). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS17+6T>G. ClinVar contains an entry for this variant (Variation ID: 2773). Studies have shown that this variant is associated with skipping of exon 17, which introduces a frameshift (PMID:16465621). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000032336 SCV001163705 pathogenic Mucolipidosis type II criteria provided, single submitter clinical testing
OMIM RCV000002902 SCV000023060 pathogenic Pseudo-Hurler polydystrophy 2006-03-01 no assertion criteria provided literature only
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 Mucolipidosis type II 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Natera, Inc. RCV000032336 SCV001457939 pathogenic Mucolipidosis type II 2020-09-16 no assertion criteria provided clinical testing

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