ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)

dbSNP: rs758250836
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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 RCV000589988 SCV000696939 uncertain significance not provided 2017-07-13 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2976T>A (p.Phe992Leu) variant causes a missense change involving the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant. This variant was found in 2/121164 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0062697). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
Fulgent Genetics, Fulgent Genetics RCV002506399 SCV002816734 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-09-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834845 SCV002083570 uncertain significance CFTR-related disorder 2019-02-26 no assertion criteria provided clinical testing

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