ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.382del (p.Ala128fs)

dbSNP: rs63750865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000075689 SCV000106692 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000075689 SCV000284060 pathogenic Lynch syndrome 2015-12-25 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 5 of the MLH1 mRNA (c.382delG), causing a frameshift at codon 128. This creates a premature translational stop signal (p.Ala128Glnfs*8) and is expected to result in an absent or disrupted protein product. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in a family with individuals affected with breast cancer and with colon cancer (PMID: 17026620). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV001381184 SCV001579473 pathogenic Hereditary nonpolyposis colorectal neoplasms 2015-12-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Truncating variants in MLH1 are known to be pathogenic. This particular truncation has been reported in a family with individuals affected with breast cancer and with colon cancer  (PMID: 17026620). This sequence change deletes 1 nucleotide from exon 5 of the MLH1 mRNA (c.382delG), causing a frameshift at codon 128. This creates a premature translational stop signal (p.Ala128Glnfs*8) and is expected to result in an absent or disrupted protein product.

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