ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala)

gnomAD frequency: 0.00001  dbSNP: rs1036089094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606090 SCV000725787 likely benign not specified 2017-12-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000644666 SCV000766369 benign Koolen-de Vries syndrome 2023-12-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000644666 SCV003813918 uncertain significance Koolen-de Vries syndrome 2019-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403424 SCV004104871 uncertain significance KANSL1-related disorder 2023-08-03 criteria provided, single submitter clinical testing The KANSL1 c.2194A>G variant is predicted to result in the amino acid substitution p.Thr732Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-44117077-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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