ClinVar Miner

Submissions for variant NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg)

gnomAD frequency: 0.00025  dbSNP: rs760933549
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475207 SCV000552214 uncertain significance Primary ciliary dyskinesia 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 377 of the DNAAF2 protein (p.Gly377Arg). This variant is present in population databases (rs760933549, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DNAAF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 411170). 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: "Deleterious"; 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.
Eurofins Ntd Llc (ga) RCV000592668 SCV000701630 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000475207 SCV002608002 uncertain significance Primary ciliary dyskinesia 2021-06-11 criteria provided, single submitter clinical testing The c.1129G>C (p.G377R) alteration is located in exon 1 (coding exon 1) of the DNAAF2 gene. This alteration results from a G to C substitution at nucleotide position 1129, causing the glycine (G) at amino acid position 377 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV000592668 SCV004226513 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing BP4
Fulgent Genetics, Fulgent Genetics RCV005004176 SCV005629295 uncertain significance Primary ciliary dyskinesia 10 2024-04-15 criteria provided, single submitter clinical testing

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