ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.245-11C>T

gnomAD frequency: 0.00002  dbSNP: rs552476248
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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 RCV002044824 SCV002117151 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2022-01-14 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the GALNS gene. It does not directly change the encoded amino acid sequence of the GALNS protein. This variant is present in population databases (rs552476248, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GALNS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant disrupts the c.245-11C nucleotide in the GALNS gene. Other variant(s) that disrupt this nucleotide have been determined to be pathogenic (PMID: 25545067). This suggests that this nucleotide is clinically significant, and that variants that disrupt this position are likely to be disease-causing. 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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