Submissions for variant NM_001109809.5(ZFP57):c.491G>A (p.Arg164Gln)

gnomAD frequency: 0.00372  dbSNP: rs200541066

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000311047	SCV000461913	likely benign	Diabetes mellitus, transient neonatal, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174463	SCV001337602	benign	Monogenic diabetes	2018-11-21	criteria provided, single submitter	research	ACMG criteria: BP4 (REVEL 0.010 + 10 predictors), BA1 (3.5% in gnomAD African), BS2 (41 homozygotes in gnomAD)= benign
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058579	SCV002477078	benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000311047	SCV003799264	benign	Diabetes mellitus, transient neonatal, 1	2022-03-02	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003221301	SCV003915678	benign	Transitory neonatal diabetes mellitus		criteria provided, single submitter	research	ZFP57 gene mutations are associated with neonatal diabetes, however the role of this particular variant rs200541066 of ZFP57 gene remains uncertain and needs further clinical validation.
Breakthrough Genomics, Breakthrough Genomics	RCV002058579	SCV005223318	likely benign	not provided		criteria provided, single submitter	not provided