ClinVar Miner

Submissions for variant NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)

gnomAD frequency: 0.00019  dbSNP: rs201230044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546439 SCV001765957 uncertain significance not provided 2019-12-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Reported in the heterozygous state in a patient with central serous chorioretinopathy who also harbored several variants in other genes (Schellevis et al., 2019); This variant is associated with the following publications: (PMID: 30724488)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032560 SCV002146728 uncertain significance RFT1-congenital disorder of glycosylation 2022-10-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 428 of the RFT1 protein (p.Ser428Asn). This variant is present in population databases (rs201230044, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RFT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1187107). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RFT1 protein function. 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 RCV004039274 SCV004939485 uncertain significance Inborn genetic diseases 2022-11-14 criteria provided, single submitter clinical testing The c.1283G>A (p.S428N) alteration is located in exon 12 (coding exon 12) of the RFT1 gene. This alteration results from a G to A substitution at nucleotide position 1283, causing the serine (S) at amino acid position 428 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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