ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu)

gnomAD frequency: 0.00001  dbSNP: rs1556832824
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002473245 SCV002770159 uncertain significance not provided 2022-12-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV005367797 SCV006021653 uncertain significance Inborn genetic diseases 2025-01-17 criteria provided, single submitter clinical testing The c.4286C>T (p.P1429L) alteration is located in exon 25 (coding exon 25) of the KDM5C gene. This alteration results from a C to T substitution at nucleotide position 4286, causing the proline (P) at amino acid position 1429 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001249227 SCV001423161 not provided Syndromic X-linked intellectual disability Claes-Jensen type no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12-12-2018 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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