ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.164+1G>A

dbSNP: rs397508243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046367 SCV000245986 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Johns Hopkins Genomics, Johns Hopkins University RCV000046367 SCV000992331 pathogenic Cystic fibrosis 2019-03-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046367 SCV004803358 pathogenic Cystic fibrosis 2024-01-15 criteria provided, single submitter clinical testing Variant summary: CFTR c.164+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5' splicing donor site. Several publications report experimental evidence that this variant affects mRNA splicing (e.g., Castellani_2008, Joynt_2020). The variant was absent in 249608 control chromosomes (gnomAD). c.164+1G>A has been reported in the literature in individuals affected with Cystic Fibrosis (e.g., Walkowiak_2001, Krenkova_2012, Kalelkar_2022). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 18456578, 33085659, 34957709, 23276700, 11589722). ClinVar contains an entry for this variant (Variation ID: 53303). Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV004566865 SCV005057412 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2024-03-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826615 SCV002080076 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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