Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000792604 | SCV000931910 | uncertain significance | not provided | 2024-04-29 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 536 of the MSH3 protein (p.Thr536Ala). This variant is present in population databases (rs756837309, 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: 639727). 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 tolerated. 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 | RCV002388415 | SCV002703665 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-19 | criteria provided, single submitter | clinical testing | The c.1606A>G (p.T536A) alteration is located in exon 11 (coding exon 11) of the MSH3 gene. This alteration results from a A to G substitution at nucleotide position 1606, causing the threonine (T) at amino acid position 536 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004569507 | SCV005054807 | uncertain significance | Endometrial carcinoma | 2023-11-02 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005036130 | SCV005666187 | uncertain significance | Endometrial carcinoma; Familial adenomatous polyposis 4 | 2024-03-09 | criteria provided, single submitter | clinical testing |