ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2120C>G (p.Ser707Cys)

gnomAD frequency: 0.00001  dbSNP: rs1395267446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242511 SCV001415604 uncertain significance Cystic fibrosis 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 707 of the CFTR protein (p.Ser707Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001835130 SCV002080708 uncertain significance CFTR-related disorders 2019-03-27 no assertion criteria provided clinical testing

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