ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys)

dbSNP: rs397508152
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Total submissions: 3
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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 RCV000577797 SCV001482265 pathogenic Cystic fibrosis 2021-02-23 criteria provided, single submitter clinical testing Variant summary: CFTR c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) results in an in-frame deletion-insertion that is predicted to delete two amino acids from the protein and insert two new amino acids. The variant allele was found at a frequency of 2.2e-05 in 277156 control chromosomes, absent in approximately 276736 alleles in the gnomAD database and reported at a frequency of 0.017 in alleles of Jewish Georgian origin (Shoshani_1993). c.1075_1079delinsAAAAA has been reported in the literature in multiple individuals affected with Cystic Fibrosis (example, Shoshani_1993, Wilschanski_1999, Bobadilla_2002, Sugarman_2004, Heim_2004, Chevalier-Porst_1994, Heim_2001, Petreska_1998, Schrijver_2005, Sosnay_2013, Quint_2005, Salinas_2016, Behar_2017, Mei-Zahav_2018, Petrova_2020). It has been observed as part of a multinucleotide variation, that is variably annotated either as Q359K/T360K, p.[Gln359Lys;Thr360Lys], c.[1075C>A;1079C>A], or c.1075_1079delCAAACinsAAAAA or p.Gln359_Thr360delinsLysLys. These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in intermediate disruption in processing (Sosnay_2013). 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.
Baylor Genetics RCV003473443 SCV004213436 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-08-08 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577797 SCV000679075 not provided Cystic fibrosis no assertion provided literature only

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