ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln)

gnomAD frequency: 0.00001  dbSNP: rs777653524
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839298 SCV002099284 uncertain significance Intellectual disability, autosomal dominant 29 2021-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074398 SCV002463460 likely benign not provided 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529023 SCV004105235 uncertain significance SETBP1-related disorder 2023-09-25 criteria provided, single submitter clinical testing The SETBP1 c.2741G>A variant is predicted to result in the amino acid substitution p.Arg914Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/18-42532046-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004041043 SCV004946260 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.2741G>A (p.R914Q) alteration is located in exon 4 (coding exon 3) of the SETBP1 gene. This alteration results from a G to A substitution at nucleotide position 2741, causing the arginine (R) at amino acid position 914 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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