ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])

dbSNP: rs1567519128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000686919 SCV000814460 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-08-26 criteria provided, single submitter clinical testing This variant, c.1213_1218del, results in the deletion of 2 amino acid(s) of the GALNS protein (p.Trp405_Thr406del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with a mucopolysaccharidosis IVA (PMID: 8844220). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000686919 SCV001547929 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Absent from gnomAD v2.1.1 (PM2_moderate); protein length changes as a result of in-frame deletions/insertions in a nonrepeat region (PM4_supporting)

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