ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.441del (p.Asn148fs)

dbSNP: rs281864955
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673915 SCV000799171 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000673915 SCV001589669 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-12-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn148Thrfs*4) 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 present in population databases (rs775347677, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucolipidosis II (PMID: 19659762). ClinVar contains an entry for this variant (Variation ID: 39079). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV003137551 SCV003824675 pathogenic not provided 2023-06-21 criteria provided, single submitter clinical testing
GeneDx RCV003137551 SCV004168932 pathogenic not provided 2023-04-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32651481, 30882951, 19659762)
GeneReviews RCV000032346 SCV000055993 not provided Mucolipidosis type II no assertion provided literature only
Natera, Inc. RCV000032346 SCV002088608 pathogenic Mucolipidosis type II 2020-07-09 no assertion criteria provided clinical testing

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