ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.118-1G>A

dbSNP: rs1301743166
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380993 SCV001579236 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2022-09-03 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069206). Disruption of this splice site has been observed in individuals with mucolipidosis II and III (PMID: 16630736, 27662472). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 1 of the GNPTAB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912).
Fulgent Genetics, Fulgent Genetics RCV001380993 SCV005632601 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2024-04-11 criteria provided, single submitter clinical testing
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center RCV003984858 SCV004041884 pathogenic Mucolipidosis no assertion criteria provided research

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