ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp)

gnomAD frequency: 0.00001  dbSNP: rs1018074229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763955 SCV002000188 uncertain significance not provided 2023-06-28 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002544139 SCV003452730 benign Spastic paraplegia 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540501 SCV003720766 uncertain significance Inborn genetic diseases 2022-04-14 criteria provided, single submitter clinical testing The c.2830A>T (p.R944W) alteration is located in exon 19 (coding exon 19) of the KDM5C gene. This alteration results from a A to T substitution at nucleotide position 2830, causing the arginine (R) at amino acid position 944 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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