ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1661+1G>A (rs267607969)

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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) RCV000076216 SCV000107234 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Invitae RCV000627711 SCV000284118 pathogenic Hereditary nonpolyposis colorectal neoplasms 2017-09-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the MSH2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in individuals affected with Lynch syndrome (PMID: 12624141, 16034045, 16142001, 21642682). This variant is also known as IVS10+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 90719). A different variant affecting this nucleotide (c.1667+1G>T) has been reported in families affected with Lynch syndrome (PMID: 17569143, 21642682), indicating that this nucleotide may be crucial for normal mRNA splicing. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000986675 SCV001135737 likely pathogenic Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing

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