ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1826A>G (p.His609Arg) (rs397508310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577469 SCV000924271 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Integrated Genetics/Laboratory Corporation of America RCV000577469 SCV000696876 pathogenic Cystic fibrosis 2017-02-28 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1826A>G (p.His609Arg) variant located in the P-loop containing nucleoside triphosphate hydrolase (via InterPro) causes a missense change involving a conserved nucleotide, which 4/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 119096 control chromosomes. Multiple publications cite the variant in affected individuals diagnosed with CF including both compound heterozygotes and 4 homozygous individuals, who are indicated to have a more severe phenotype than the compound heterozygous individuals. Although, no clinical diagnostic laboratories have cited this variant with a classification. In addition, LCA has classified additional missense variants surrounding the variant of interest in the pathogenic spectrum such as c.1837A>G (p.Ala613Thr VUS-possibly pathogenic), c.1841A>G (p.Asp614Gly pathogenic), and c.1853T>C (p.Ile618Thr VUS-possibly pathogenic), therefore, suggesting this region could be important for proper CFTR function. Taken together, this variant is classified as pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577469 SCV000679342 not provided Cystic fibrosis no assertion provided literature only

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