ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val) (rs75647395)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000589513 SCV000202441 uncertain significance not provided 2014-01-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589513 SCV000696976 uncertain significance not provided 2017-05-15 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3607A>G (p.Ile1203Val) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant is absent in 120982 control chromosomes, including chromosomes in ExAC database. The variant of interest and a pathogenic CFTR variant (c.3764C>A/p.Ser1255X) have been found together in at least 2 individuals (Cutting_1992, Behar_2017), one of whom was confirmed to have the two variants in cis (Cutting_1992). However, the variant of interest was also found in the homozygous state in a 2 month-old boy with obstructive lung disease, airway colonization by Pseudomonas aeruginisa and positive sweat test (67mM, Fredj_2009). c.3764C>A was not reported in this patient. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. Taken together, this variant is classified as VUS until additional information becomes available.
Mendelics RCV000757853 SCV000886357 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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