Submissions for variant NM_001040108.2(MLH3):c.902A>T (p.Glu301Val)

gnomAD frequency: 0.00040  dbSNP: rs77687901

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000655407	SCV000777337	likely benign	Colorectal cancer, hereditary nonpolyposis, type 7	2024-05-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004025972	SCV002686616	uncertain significance	not specified	2024-09-01	criteria provided, single submitter	clinical testing	The p.E301V variant (also known as c.902A>T), located in coding exon 1 of the MLH3 gene, results from an A to T substitution at nucleotide position 902. The glutamic acid at codon 301 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Fulgent Genetics, Fulgent Genetics	RCV005010636	SCV005633322	uncertain significance	Endometrial carcinoma; Colorectal cancer, hereditary nonpolyposis, type 7; Colorectal cancer	2024-05-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965418	SCV004793602	likely benign	MLH3-related disorder	2019-12-04	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).