ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.637-6T>G

gnomAD frequency: 0.00001  dbSNP: rs750793712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057819 SCV001222334 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-01-25 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the GNPTAB gene. It does not directly change the encoded amino acid sequence of the GNPTAB protein. This variant is present in population databases (rs750793712, gnomAD 0.04%). This variant has been observed in individual(s) with mucolipidosis type III (PMID: 28095893, 32014045). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 853077). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001274642 SCV001458986 likely pathogenic Mucolipidosis type II 2020-09-16 no assertion criteria provided clinical testing

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