ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.489+2T>C (rs397508732)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577437 SCV000790974 likely pathogenic Cystic fibrosis 2017-04-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781276 SCV000919189 likely pathogenic not specified 2017-11-22 criteria provided, single submitter clinical testing Variant summary: The CFTR c.489+2T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict the weakening or complete loss of a cannonical splice donor site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 240558 control chromosomes. The variant has been reported in one affected patient in the homozygous state (Malone_1998). Taken together, this variant is classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577437 SCV000679160 not provided Cystic fibrosis no assertion provided literature only

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