Submissions for variant NM_020987.5(ANK3):c.5408C>A (p.Ser1803Tyr)

dbSNP: rs1057523766

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000444861	SCV000533254	uncertain significance	not provided	2016-11-07	criteria provided, single submitter	clinical testing	The S1803Y variant in the ANK3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1803Y variant 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 S1803Y variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S1803Y as a variant of uncertain significance.
Ambry Genetics	RCV004629211	SCV005136511	uncertain significance	Inborn genetic diseases	2024-04-01	criteria provided, single submitter	clinical testing	The c.5408C>A (p.S1803Y) alteration is located in exon 37 (coding exon 37) of the ANK3 gene. This alteration results from a C to A substitution at nucleotide position 5408, causing the serine (S) at amino acid position 1803 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.