ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys)

gnomAD frequency: 0.00001  dbSNP: rs1245355138
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501834 SCV000595322 uncertain significance not specified 2016-08-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001329820 SCV001521360 uncertain significance Syndromic X-linked intellectual disability Claes-Jensen type 2020-07-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV001509121 SCV001715660 uncertain significance not provided 2019-07-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003750799 SCV004523088 uncertain significance Spastic paraplegia 2023-08-30 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KDM5C protein function. ClinVar contains an entry for this variant (Variation ID: 435565). This variant has not been reported in the literature in individuals affected with KDM5C-related conditions. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 1522 of the KDM5C protein (p.Asn1522Lys).

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