Submissions for variant NM_018685.5(ANLN):c.28G>A (p.Glu10Lys)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Neuberg Centre For Genomic Medicine, NCGM	RCV003337879	SCV004048269	uncertain significance	Focal segmental glomerulosclerosis 8		criteria provided, single submitter	clinical testing	The missense variant c.28G>A (p.Glu10Lys) in TBC1D8B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu10Lys variant is 0.003% alleles in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The amino acid change p.Glu10Lys in ANLN is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance.
Ambry Genetics	RCV004334153	SCV004907490	uncertain significance	not specified	2023-12-12	criteria provided, single submitter	clinical testing	The c.28G>A (p.E10K) alteration is located in exon 2 (coding exon 2) of the ANLN gene. This alteration results from a G to A substitution at nucleotide position 28, causing the glutamic acid (E) at amino acid position 10 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.