ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.5_7del (p.Ser2del)

dbSNP: rs1559499994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191664 SCV001359559 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-14 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid 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 MLH1-related disorders in the literature. This variant has been identified in 1/251482 chromosomes 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 RCV001191664 SCV002642400 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-21 criteria provided, single submitter clinical testing The c.5_7delCGT variant (also known as p.S2del) is located in coding exon 1 of the MLH1 gene. This variant results from an in-frame CGT deletion at nucleotide positions 5 to 7. This results in the in-frame deletion of a serine at codon 2. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770163 SCV004681730 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-08-11 criteria provided, single submitter clinical testing This variant, c.5_7del, results in the deletion of 1 amino acid(s) of the MLH1 protein (p.Ser2del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MLH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 928016). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
All of Us Research Program, National Institutes of Health RCV004010537 SCV004835207 uncertain significance Lynch syndrome 2023-10-23 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid 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 MLH1-related disorders in the literature. This variant has been identified in 1/251482 chromosomes 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.
Baylor Genetics RCV004570399 SCV005058010 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 2 2023-12-19 criteria provided, single submitter clinical testing

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