ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)

dbSNP: rs1555450681
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673912 SCV000799168 uncertain significance GNPTG-mucolipidosis 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV000804527 SCV000944441 pathogenic not provided 2021-12-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 557735). This variant has not been reported in the literature in individuals affected with GNPTG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu10*) in the GNPTG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTG are known to be pathogenic (PMID: 19370764, 20301784).
Genome-Nilou Lab RCV000673912 SCV002045533 likely pathogenic GNPTG-mucolipidosis 2021-11-07 criteria provided, single submitter clinical testing

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