ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.19del (p.Val7fs)

dbSNP: rs2080886738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214519 SCV001386203 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val7Leufs*10) in the MLH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MLH1 are known to be pathogenic (PMID: 15713769, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch-like syndrome (PMID: 25110875). ClinVar contains an entry for this variant (Variation ID: 944176). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003449679 SCV004186372 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2023-07-07 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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