ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)

gnomAD frequency: 0.00001  dbSNP: rs781627838
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791410 SCV000261536 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566750 SCV000662446 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-13 criteria provided, single submitter clinical testing The p.I1200V variant (also known as c.3598A>G), located in coding exon 7 of the MSH6 gene, results from an A to G substitution at nucleotide position 3598. The isoleucine at codon 1200 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000204738 SCV000837918 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000566750 SCV001342056 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002243889 SCV002512750 uncertain significance Lynch syndrome 5 2021-10-26 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting
GeneDx RCV002277568 SCV002567440 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 17531815, 21120944)
Baylor Genetics RCV003462389 SCV004195790 uncertain significance Endometrial carcinoma 2023-05-11 criteria provided, single submitter clinical testing

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