ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) (rs75763344)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577297 SCV000791000 uncertain significance Cystic fibrosis 2017-04-18 criteria provided, single submitter clinical testing
Mendelics RCV000577297 SCV000886348 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004243 SCV001163119 likely pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093485 SCV001250503 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Invitae RCV000577297 SCV001577168 likely pathogenic Cystic fibrosis 2020-07-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 314 of the CFTR protein (p.Gly314Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of cystic fibrosis (PMID: 7509684, 18178635). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 54089). This variant has been reported to affect CFTR protein function (PMID: 9512029). This variant disrupts the p.Gly314 amino acid residue in CFTR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8829633, 24586523). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577297 SCV000679191 not provided Cystic fibrosis no assertion provided literature only

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