ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.19G>A (p.Ala7Thr)

gnomAD frequency: 0.00001  dbSNP: rs768152581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187790 SCV000241387 uncertain significance not provided 2014-03-17 criteria provided, single submitter clinical testing This variant is denoted p.Ala7Thr (GCT>ACT): c.19 G>A in exon 2 of the KANSL1 gene (NM_001193466.1). The A7T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A7T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function; however missense mutations associated with KANSL1-related disorders have not been reported in this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s).
Invitae RCV000187790 SCV000831576 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Invitae RCV001497152 SCV001701871 likely benign Koolen-de Vries syndrome 2021-08-10 criteria provided, single submitter clinical testing

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