Submissions for variant NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)

gnomAD frequency: 0.00212  dbSNP: rs145068586

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000467424	SCV000462660	uncertain significance	Fanconi anemia complementation group E	2018-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000467424	SCV000558842	benign	Fanconi anemia complementation group E	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001653707	SCV001867325	benign	not provided	2021-05-12	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27989786)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001653707	SCV002011423	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001653707	SCV002062671	likely benign	not provided	2021-12-01	criteria provided, single submitter	clinical testing
Center of Medical Genetics and Primary Health Care	RCV001269487	SCV001449055	benign	Malignant tumor of breast		no assertion criteria provided	clinical testing