ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.2077GAG[1] (p.Glu694del)

dbSNP: rs1575632231
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823142 SCV000963989 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2021-06-02 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with MLH1-related disease. This variant is not present in population databases (ExAC no frequency). This variant, c.2080_2082delGAG, results in the deletion of 1 amino acid of the MLH1 protein (p.Glu694del), but otherwise preserves the integrity of the reading frame.
All of Us Research Program, National Institutes of Health RCV004002852 SCV004843269 uncertain significance Lynch syndrome 2023-02-24 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid at exon 18 of the MLH1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004029131 SCV005033335 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-03 criteria provided, single submitter clinical testing The c.2080_2082delGAG variant (also known as p.E694del) is located in coding exon 18 of the MLH1 gene. This variant results from an in-frame GAG deletion at nucleotide positions 2080 to 2082. This results in the in-frame deletion of a glutamic acid at codon 694. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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