ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del)

dbSNP: rs2116684480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248990 SCV002516255 likely pathogenic Hereditary pancreatitis 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239328 SCV005884402 uncertain significance not specified 2024-12-26 criteria provided, single submitter clinical testing Variant summary: CFTR c.1066_1071delTGGGCT (p.Trp356_Ala357del) results in an in-frame deletion that is predicted to remove 2 amino acids from the encoded protein. The variant was absent in 251114 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1066_1071delTGGGCT has been reported in the literature as a complex allele with the missense variant c.1072G>A (p.Val358Ile) in cis in individuals affected with Cystic Fibrosis (McGinniss_2005, Martinez-Hernandez_2024). These reports do not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 38601560, 16189704). ClinVar contains an entry for this variant (Variation ID: 1685263). Based on the evidence outlined above, the variant was classified as uncertain significance.

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