ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)

gnomAD frequency: 0.00001  dbSNP: rs144714869
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132112 SCV000187178 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-18 criteria provided, single submitter clinical testing The p.I1283V variant (also known as c.3847A>G), located in coding exon 9 of the MSH6 gene, results from an A to G substitution at nucleotide position 3847. The isoleucine at codon 1283 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000168184 SCV000218847 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000132112 SCV000690412 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-06 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1283 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 3/250882 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Mendelics RCV000708894 SCV000837923 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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