ClinVar Miner

Submissions for variant NM_015559.3(SETBP1):c.4619C>T (p.Pro1540Leu)

gnomAD frequency: 0.00002  dbSNP: rs1037280105
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273649 SCV002558535 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002273649 SCV003460211 benign not provided 2024-10-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047493 SCV004946266 uncertain significance Inborn genetic diseases 2023-10-17 criteria provided, single submitter clinical testing The c.4619C>T (p.P1540L) alteration is located in exon 6 (coding exon 5) of the SETBP1 gene. This alteration results from a C to T substitution at nucleotide position 4619, causing the proline (P) at amino acid position 1540 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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