ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)

dbSNP: rs1553651299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569357 SCV000669564 pathogenic Hereditary cancer-predisposing syndrome 2016-04-25 criteria provided, single submitter clinical testing The c.1304_1305delCAins13 variant, located in coding exon 12 of the MLH1 gene, results from the deletion of two nucleotides and insertion of 13 nucleotides causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Myriad Genetics, Inc. RCV003451244 SCV004189920 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-19 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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