ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)

dbSNP: rs1553653084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506309 SCV000601358 likely pathogenic not provided 2016-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011919 SCV001172303 pathogenic Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing The c.1502_1503delTTinsA pathogenic mutation, located in coding exon 13 of the MLH1 gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.I501Kfs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003449441 SCV004186446 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-20 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003449441 SCV004193030 likely pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2024-01-24 criteria provided, single submitter clinical testing

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