ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1365-1G>C

dbSNP: rs1909832718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332505 SCV001524852 pathogenic Mucopolysaccharidosis, MPS-IV-A 2019-12-12 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001332505 SCV004277720 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-08-28 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: 1030834). Disruption of this splice site has been observed in individual(s) with Mucopolysaccharidosis type IVA (PMID: 25545067). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 12 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).

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