Submissions for variant NM_001109809.5(ZFP57):c.1033G>C (p.Ala345Pro)

gnomAD frequency: 0.00211  dbSNP: rs200537697

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001152387	SCV001313601	uncertain significance	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174459	SCV001337598	uncertain significance	Monogenic diabetes	2019-02-01	criteria provided, single submitter	research	ACMG criteria: BP4 (Revel score 0.024 + 9 predictors) =VUS Notes: PMID: 23748067 reported a Turkish patient with three novel homozygous ZFP57 variant, one is A345P (called A325P), the other is T159S(called T139S). But the patient has another homozygous S252P, which is more likely to be the cause since it's conserved across species.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002070848	SCV002385734	likely benign	not provided	2025-01-08	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003906270	SCV004721459	likely benign	ZFP57-related disorder	2019-09-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).