Submissions for variant NM_005591.4(MRE11):c.37T>A (p.Phe13Ile)

dbSNP: rs149101834

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000129638	SCV000184433	benign	Hereditary cancer-predisposing syndrome	2015-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079597	SCV000260998	likely benign	Ataxia-telangiectasia-like disorder	2024-12-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000780432	SCV000917678	benign	not specified	2017-10-13	criteria provided, single submitter	clinical testing	Variant summary: The MRE11A c.37T>A (p.Phe13Ile) variant located in the calcineurin-like phosphoesterase domain (via InterPro) involves the alteration of a conserved nucleotide and 3/5 in silico tools predict a benign outcome for this variant. However, these predictions have yet to be functionally assessed. This variant was found in 96/273540 control chromosomes at a frequency of 0.000351, which is approximately 6 times the estimated maximal expected allele frequency of a pathogenic MRE11A variant (0.0000625), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories classified this variant as "likely benign/benign." The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign.
Athena Diagnostics	RCV000524531	SCV001144543	benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000129638	SCV002538425	likely benign	Hereditary cancer-predisposing syndrome	2020-12-03	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000524531	SCV004220923	benign	not provided	2019-03-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945144	SCV004758984	benign	MRE11-related disorder	2020-09-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).