ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4389G>C (p.Gln1463His)

dbSNP: rs1019850669
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967167 SCV002200666 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003167318 SCV003883933 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.4389G>C (p.Q1463H) alteration is located in exon 6 (coding exon 5) of the SETBP1 gene. This alteration results from a G to C substitution at nucleotide position 4389, causing the glutamine (Q) at amino acid position 1463 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004538638 SCV004118922 uncertain significance SETBP1-related disorder 2023-05-12 criteria provided, single submitter clinical testing The SETBP1 c.4389G>C variant is predicted to result in the amino acid substitution p.Gln1463His. 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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