ClinVar Miner

Submissions for variant NM_001009999.3(KDM1A):c.1966C>T (p.Gln656Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003412902 SCV004123505 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing KDM1A: PM2, PS2:Moderate
Neuberg Centre For Genomic Medicine, NCGM RCV005208209 SCV005849469 uncertain significance Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 2023-06-22 criteria provided, single submitter clinical testing The observed stop gained c.1966C>T(p.Gln656Ter) variant in KDM1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Loss of function variants have been previously reported to be disease causing. Computational evidence (MutationTaster - Disease causing automatic) predicts damaging effect on protein structure and function for this variant. Study of the variant in multiple affected individuals and its functional impact on the protein is required to determine the pathogenicity of the variant. For these reasons, this variant has been classified as Uncertain Significance.

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