Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001056458 | SCV001220901 | uncertain significance | not provided | 2024-12-24 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 971 of the MSH3 protein (p.Leu971Phe). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 851946). 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 | RCV002436622 | SCV002745962 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-12-18 | criteria provided, single submitter | clinical testing | The c.2913G>C (p.L971F) alteration is located in exon 21 (coding exon 21) of the MSH3 gene. This alteration results from a G to C substitution at nucleotide position 2913, causing the leucine (L) at amino acid position 971 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005036357 | SCV005666215 | uncertain significance | Endometrial carcinoma; Familial adenomatous polyposis 4 | 2024-04-11 | criteria provided, single submitter | clinical testing |