ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2600T>C (p.Ile867Thr)

gnomAD frequency: 0.00017  dbSNP: rs187411724
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792920 SCV000932249 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 867 of the MSH3 protein (p.Ile867Thr). This variant is present in population databases (rs187411724, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 639989). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001016072 SCV001176984 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-21 criteria provided, single submitter clinical testing The p.I867T variant (also known as c.2600T>C), located in coding exon 19 of the MSH3 gene, results from a T to C substitution at nucleotide position 2600. The isoleucine at codon 867 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV001016072 SCV002536069 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-29 criteria provided, single submitter curation
Baylor Genetics RCV003461072 SCV004197001 uncertain significance Endometrial carcinoma 2024-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005036131 SCV005666208 uncertain significance Endometrial carcinoma; Familial adenomatous polyposis 4 2024-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000792920 SCV005848322 uncertain significance not provided 2024-08-12 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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