ClinVar Miner

Submissions for variant NM_032520.5(GNPTG):c.750dup (p.Glu251fs)

dbSNP: rs758242017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668501 SCV000793116 uncertain significance GNPTG-mucolipidosis 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV002531201 SCV003441760 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu251Argfs*48) in the GNPTG gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the GNPTG protein. This variant is present in population databases (rs758242017, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GNPTG-related conditions. ClinVar contains an entry for this variant (Variation ID: 553120). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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