ClinVar Miner

Submissions for variant NM_004187.5(KDM5C):c.4597A>C (p.Thr1533Pro)

gnomAD frequency: 0.00052  dbSNP: rs145666414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000869279 SCV001898964 benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055342 SCV002402122 likely benign Spastic paraplegia 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336264 SCV002638631 likely benign Inborn genetic diseases 2019-10-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ITMI RCV000121282 SCV000085453 not provided not specified 2013-09-19 no assertion provided reference population

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