ClinVar Miner

Submissions for variant NM_000308.4(CTSA):c.990dup (p.Cys331fs)

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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 RCV001174733 SCV001338022 pathogenic Combined deficiency of sialidase AND beta galactosidase 2020-01-06 criteria provided, single submitter clinical testing Variant summary: CTSA c.1044dupC (p.Cys349LeufsX56) 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. The variant allele was found at a frequency of 3.6e-05 in 250652 control chromosomes (gnomAD). c.1044dupC has been reported in the literature in individuals (in compound heterozygous and homozygous) affected with Galactosialidosis (Groener_2003). These data indicate that the variant is likely to be associated with disease. At least one publication, Groener_2003, reports extremely low enzyme activity in patients carrying this variant. 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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