ClinVar Miner

Submissions for variant NM_001005498.4(RHBDF2):c.65G>A (p.Arg22Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004585154 SCV005073858 uncertain significance Palmoplantar keratoderma-esophageal carcinoma syndrome criteria provided, single submitter clinical testing The observed missense variant c.65G>A (p.Arg22Gln) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg22Gln variant is presesnt with an allele frequency of 0.006% in the gnomAD exomes database. This variant has not been submitted to the ClinVar database. The amino acid change p.Arg22Gln in RHBDF2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 22 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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