ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp) (rs386134230)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046718 SCV000924213 pathogenic Cystic fibrosis 2018-08-31 reviewed by expert panel research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000046718 SCV000245589 likely pathogenic Cystic fibrosis 2015-02-04 criteria provided, single submitter clinical testing The p.Gly970Asp variant in CFTR has been reported in 2 compound heterozygous Asian individuals with cystic fibrosis (Wine 2001, Liu 2012) and in 3 compound heterozygous Asian individuals with congenital bilateral absence of vans deferens (CBAVD; Li 2012). This variant has been identified in 0.01% (1/8749) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs386134230). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This variant is located in the first base of the exon, which is part of the 3’ splice region. Computational tools do not predict altered splicing. However, this information is not predictive enough to rule out pathogenicity. Additional computational prediction tools and conservation analysis suggest that the p.Gly970Asp variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic.
Counsyl RCV000046718 SCV000485692 likely pathogenic Cystic fibrosis 2016-01-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000046718 SCV000052160 likely pathogenic Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing

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