ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)

gnomAD frequency: 0.00001  dbSNP: rs775975116
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990091 SCV001140884 likely benign Schinzel-Giedion syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002549736 SCV003449816 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 803487). This variant has not been reported in the literature in individuals affected with SETBP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1401 of the SETBP1 protein (p.Arg1401Gln).
PreventionGenetics, part of Exact Sciences RCV003413775 SCV004109094 uncertain significance SETBP1-related condition 2023-05-22 criteria provided, single submitter clinical testing The SETBP1 c.4202G>A variant is predicted to result in the amino acid substitution p.Arg1401Gln. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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