ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.3088C>T (p.Arg1030Trp)

dbSNP: rs782388435
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763270 SCV001990663 uncertain significance not provided 2019-03-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002540335 SCV003264628 likely benign Spastic paraplegia 2022-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988725 SCV005612955 uncertain significance Inborn genetic diseases 2024-08-02 criteria provided, single submitter clinical testing The c.3088C>T (p.R1030W) alteration is located in exon 20 (coding exon 20) of the KDM5C gene. This alteration results from a C to T substitution at nucleotide position 3088, causing the arginine (R) at amino acid position 1030 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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