ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.732_733del (p.Lys244fs)

dbSNP: rs398124400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179972 SCV000232299 pathogenic not provided 2013-01-21 criteria provided, single submitter clinical testing
Invitae RCV001388068 SCV001588906 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2023-01-14 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: 96124). This premature translational stop signal has been observed in individual(s) with GNPTAB-related conditions (PMID: 32341820). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys244Asnfs*10) 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).

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