Submissions for variant NM_000037.4(ANK1):c.814G>T (p.Glu272Ter)

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002598485	SCV002951227	pathogenic	not provided	2022-09-29	criteria provided, single submitter	clinical testing	This premature translational stop signal has been observed in individual(s) with hereditary spherocytosis (PMID: 31602632, 32436265). This sequence change creates a premature translational stop signal (p.Glu272*) in the ANK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANK1 are known to be pathogenic (PMID: 8640229). This variant is not present in population databases (gnomAD no frequency). This variant is also known as c.913G>T (p.Glu305Ter). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic	RCV002598485	SCV004227656	pathogenic	not provided	2023-01-17	criteria provided, single submitter	clinical testing	PM2, PM6, PS4_moderate, PVS1
Revvity Omics, Revvity	RCV003491129	SCV004236601	pathogenic	Hereditary spherocytosis type 1	2023-08-03	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV003491129	SCV005418822	pathogenic	Hereditary spherocytosis type 1		criteria provided, single submitter	clinical testing	PVS1+PM2_Supporting+PS4_Supporting+PM6