ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.1228T>C (p.Ser410Pro)

gnomAD frequency: 0.00003  dbSNP: rs750762528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969735 SCV002218143 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538662 SCV004714819 uncertain significance SETBP1-related disorder 2023-11-27 no assertion criteria provided clinical testing The SETBP1 c.1228T>C variant is predicted to result in the amino acid substitution p.Ser410Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD. 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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