ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2327C>T (p.Ser776Leu) (rs397508365)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586306 SCV000696894 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2327C>T variant affects a conserved nucleotide, resulting in an amino acid change from Ser to Leu. 4/5 in-silico tools predict this variant to be damaging. This variant was not found in 110966 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical 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 was classified as a variant of uncertain significance (VUS) until additional information becomes available.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000586306 SCV000885182 uncertain significance not provided 2018-05-03 criteria provided, single submitter clinical testing The CFTR c.2327C>T; p.Ser776Leu variant (rs397508365), to our knowledge, is not reported in the medical literature but is described as a variant of uncertain clinical significance by at least one laboratory in ClinVar (Variation ID: 495908) and is observed in the general population at a low overall frequency of 0.0005% (1/189186 alleles) in the Genome Aggregation Database. The serine at codon 776 is weakly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant to be tolerated. Due to lack of clinical or functional data regarding this variant, its clinical significance cannot be determined with certainty.

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