ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)

dbSNP: rs281864963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667811 SCV000792316 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000667811 SCV001589668 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-05-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 39086). This premature translational stop signal has been observed in individual(s) with mucolipidosis (PMID: 19617216, 29872134). This variant is present in population databases (rs281864963, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu217Serfs*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).
GeneReviews RCV000032353 SCV000056000 not provided Mucolipidosis type II no assertion provided literature only
Natera, Inc. RCV000032353 SCV002088603 pathogenic Mucolipidosis type II 2021-05-19 no assertion criteria provided clinical testing

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