ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1373del (p.Gly458fs)

dbSNP: rs397508196
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046285 SCV000924259 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Counsyl RCV000046285 SCV000486665 likely pathogenic Cystic fibrosis 2016-07-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004448 SCV001163493 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046285 SCV001362618 pathogenic Cystic fibrosis 2023-06-14 criteria provided, single submitter clinical testing Variant summary: CFTR c.1373delG (p.Gly458AspfsX11) results in a premature termination codon, predicted to cause an absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4.1e-06 in 244091 control chromosomes, predominantly at a frequency of 6.5e-05 within the African or African-American subpopulation in the gnomAD database. c.1373delG has been reported in the literature in an African American individual affected with Cystic Fibrosis (example, Macek_1997). The following publications have been ascertained in the context of this evaluation (PMID: 9150159, 16049310). Multiple clinical diagnostic laboratories and the CFTR2 database have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000046285 SCV003002569 pathogenic Cystic fibrosis 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly458Aspfs*11) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with cystic fibrosis (PMID: 9150159). This variant is also known as 1504delG. ClinVar contains an entry for this variant (Variation ID: 53237). For these reasons, this variant has been classified as Pathogenic.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000046285 SCV000692321 pathogenic Cystic fibrosis 2015-10-28 no assertion criteria provided clinical testing

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