Submissions for variant NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)

dbSNP: rs139600847

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000689014	SCV000816649	uncertain significance	Fanconi anemia complementation group E	2022-10-04	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 310 of the FANCE protein (p.Pro310Gln). This variant is present in population databases (rs139600847, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with FANCE-related conditions. ClinVar contains an entry for this variant (Variation ID: 134336). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FANCE protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Laboratory Services, Illumina	RCV000689014	SCV001313402	uncertain significance	Fanconi anemia complementation group E	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.
Fulgent Genetics, Fulgent Genetics	RCV000689014	SCV002816813	uncertain significance	Fanconi anemia complementation group E	2022-04-20	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153392	SCV003843735	likely pathogenic	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine	RCV003389394	SCV004101642	uncertain significance	Exstrophy-epispadias complex		criteria provided, single submitter	curation
ITMI	RCV000121010	SCV000085178	not provided	not specified	2013-09-19	no assertion provided	reference population