Submissions for variant NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)

gnomAD frequency: 0.00619  dbSNP: rs114354377

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000756092	SCV000391184	uncertain significance	Hereditary spherocytosis type 5	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756092	SCV000883808	likely benign	Hereditary spherocytosis type 5	2023-11-22	criteria provided, single submitter	clinical testing
Invitae	RCV002520957	SCV003252815	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002520957	SCV005193745	uncertain significance	not provided		criteria provided, single submitter	not provided