ClinVar Miner

Submissions for variant NM_173560.4(RFX6):c.2438G>C (p.Arg813Thr)

gnomAD frequency: 0.00061  dbSNP: rs142162854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820470 SCV002069939 uncertain significance not specified 2021-07-08 criteria provided, single submitter clinical testing DNA sequence analysis of the RFX6 gene demonstrated a sequence change, c.2438G>C, in exon 18 that results in an amino acid change, p.Arg813Thr. This sequence change has been described in the gnomAD database with a frequency of 0.24% in the African/African-American subpopulation (dbSNP rs142162854). The p.Arg813Thr change affects a highly conserved amino acid residue located in a domain of the RFX6 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Arg813Thr substitution. This sequence change does not appear to have been previously described in individuals with RFX6-related disorders. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Arg813Thr change remains unknown at this time.
GeneDx RCV004770215 SCV005375979 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV004770215 SCV005783559 likely benign not provided 2024-09-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948747 SCV004771296 likely benign RFX6-related disorder 2022-02-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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