ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4129G>A (p.Asp1377Asn)

dbSNP: rs150683293
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156193 SCV000205909 uncertain significance not specified 2013-12-27 criteria provided, single submitter clinical testing The Asp1377Asn variant in CFTR has not been previously identified in individuals with pulmonary disease or in large population studies. Aspartic acid at positio n 1377 is highly conserved in evolution, suggesting that a change would not be t olerated. Other computational analyses (biochemical amino acid properties, Alig nGVGD, PolyPhen2, and SIFT) do not provide strong support for or against an impa ct to the protein. In summary, additional information is needed to fully assess its clinical significance.
Counsyl RCV000673141 SCV000798312 uncertain significance Cystic fibrosis 2018-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283970 SCV001469501 uncertain significance not provided 2020-04-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000673141 SCV002027540 uncertain significance Cystic fibrosis 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000673141 SCV002632696 uncertain significance Cystic fibrosis 2020-04-27 criteria provided, single submitter clinical testing The p.D1377N variant (also known as c.4129G>A), located in coding exon 25 of the CFTR gene, results from a G to A substitution at nucleotide position 4129. The aspartic acid at codon 1377 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826848 SCV002075938 uncertain significance CFTR-related disorders 2019-02-06 no assertion criteria provided clinical testing

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