ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)

dbSNP: rs193922343
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491792 SCV000580109 pathogenic Hereditary cancer-predisposing syndrome 2021-12-07 criteria provided, single submitter clinical testing The c.3698_3702dupAAGAA pathogenic mutation, located in coding exon 8 of the MSH6 gene, results from a duplication of AAGAA at nucleotide position 3698, causing a translational frameshift with a predicted alternate stop codon (p.L1235Kfs*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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003449284 SCV004183387 likely pathogenic Lynch syndrome 5 2022-04-27 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated
Baylor Genetics RCV003464043 SCV004195807 likely pathogenic Endometrial carcinoma 2023-05-02 criteria provided, single submitter clinical testing

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