Submissions for variant NM_015443.4(KANSL1):c.1186C>T (p.Gln396Ter)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187802	SCV000241399	likely pathogenic	not provided	2015-01-14	criteria provided, single submitter	clinical testing	This variant is denoted p.Gln396Ter (CAG>TAG): c.1186 C>T in exon 2 of the KANSL1 gene (NM_001193466.1). The Q396X 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. Nonsense mutations in the KANSL1 gene have been reported in association with Koolen-DeVries syndrome. The Q396X variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSYV2-1 panel(s).
Invitae	RCV001317571	SCV001508240	uncertain significance	Koolen-de Vries syndrome	2021-07-14	criteria provided, single submitter	clinical testing

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