ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.50dup (p.Ser18fs) (rs397508714)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001060 SCV001158181 pathogenic not specified 2019-02-11 criteria provided, single submitter clinical testing The CFTR c.50dupT; p.Ser18fs variant (rs397508714), also known as 43_44insT or 175insT for legacy nomenclature, is reported in the SickKids database (see link). This variant also contains an entry in the ClinVar database (Variation ID: 53944). It is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by duplicating a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, a different frameshift variant at this position (c.50delT, also known as 182delT) is reported in the CFTR2 database and is commonly associated with pancreatic insufficient cystic fibrosis (CFTR2 database). Based on available information, the c.50dupT variant is considered to be pathogenic. REFERENCES CFTR2 database: Link to SickKids CFTR database:
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577158 SCV000679139 not provided Cystic fibrosis no assertion provided literature only

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