ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)

dbSNP: rs375661578
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576660 SCV000677620 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Ambry Genetics RCV000576660 SCV002622464 pathogenic Cystic fibrosis 2023-06-06 criteria provided, single submitter clinical testing The p.Q1330* pathogenic mutation (also known as c.3988C>T), located in coding exon 25 of the CFTR gene, results from a C to T substitution at nucleotide position 3988. This changes the amino acid from a glutamine to a stop codon within coding exon 25. This mutation was identified in one individual with cystic fibrosis; however, complete genotype and phenotype information was not provided (Schrijver I et al. J Mol Diagn, 2016 Jan;18:39-50). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV000576660 SCV002973255 pathogenic Cystic fibrosis 2023-03-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 487390). This premature translational stop signal has been observed in individual(s) with CFTR-related conditions (PMID: 26708955). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1330*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922).
Baylor Genetics RCV003471914 SCV004213420 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-08-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000576660 SCV001454290 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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