ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)

dbSNP: rs1793109904
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042257 SCV001205931 uncertain significance Cystic fibrosis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 1312 of the CFTR protein (p.Asp1312Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001042257 SCV002625135 uncertain significance Cystic fibrosis 2021-09-23 criteria provided, single submitter clinical testing The p.D1312Y variant (also known as c.3934G>T), located in coding exon 24 of the CFTR gene, results from a G to T substitution at nucleotide position 3934. The aspartic acid at codon 1312 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481894 SCV002780251 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-09-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001042257 SCV001454289 uncertain significance Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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