ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.60del (p.Ser21fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001420871 SCV001623291 pathogenic Combined deficiency of sialidase AND beta galactosidase 2021-04-16 criteria provided, single submitter clinical testing Variant summary: CTSA c.114delG (p.Ser39ProfsX71) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8.3e-06 in 242104 control chromosomes. c.114delG has been reported in the literature in homozygous and compound heterozygous individuals affected with Galactosialidosis (e.g. Malvagia_2004, Caciotti_2013). These data indicate that the variant is likely to be associated with disease. Several publications report a reduction in beta-galactosidase (GLB1) and neuramidase (NEU1) enzymatic acitvity in fibroblasts from patients with the variant (e.g.Malvagia_2004, Caciotti_2013). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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