ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1242+1G>T

dbSNP: rs2142993764
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002003611 SCV002268651 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-09-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1486463). This variant has not been reported in the literature in individuals affected with GALNS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 11 of the GALNS 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 GALNS are known to be pathogenic (PMID: 12442278). 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.

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