ClinVar Miner

Submissions for variant NM_000308.3(CTSA):c.571_572del (p.Phe191fs) (rs769812697)

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Total submissions: 2
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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 RCV001526984 SCV001737781 pathogenic Combined deficiency of sialidase AND beta galactosidase 2021-06-09 criteria provided, single submitter clinical testing Variant summary: CTSA c.571_572delTT (p.Phe191ProfsX39) 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 was absent in 251484 control chromosomes. c.571_572delTT has been reported in the literature in individuals affected with Galactosialidosis (e.g. Richard_1998, Okulu_2017). These data indicate that the variant may be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity (Richard_1998). 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.
OMIM RCV000000418 SCV000020562 pathogenic Galactosialidosis, late infantile 1998-01-01 no assertion criteria provided literature only

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