ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2433G>T (p.Arg811Ser) (rs778688276)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757081 SCV000885183 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing The CFTR c.2433G>T; p.Arg811Ser variant (rs778688276) has been identified during cystic fibrosis (CF) newborn screening in one clinically asymptomatic infant who also harbored a common pathogenic CFTR variant (Prach 2013). It is unknown whether or not these two variants were present on the same or opposite chromosome, and follow-up of this patient showed no manifestations of CF. The arginine at codon 811 is highly conserved but computational algorithms (PolyPhen-2: damaging, SIFT: tolerated) are inconclusive on the effect of this variant on protein structure and function. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Prach L et al. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep;15(5):710-22.
Integrated Genetics/Laboratory Corporation of America RCV000780167 SCV000917215 uncertain significance not specified 2018-07-02 criteria provided, single submitter clinical testing Variant summary: CFTR c.2433G>T (p.Arg811Ser) results in a non-conservative amino acid change located in the CFTR regulator domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 9.1e-06 in 110496 control chromosomes (ExAC). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.2433G>T, was indicated to have been found in a compound heterozygote newborn that did not present with a clear Cystic Fibrosis phenotype (Prach_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 uncertain significance.

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