ClinVar Miner

Submissions for variant NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) (rs41341748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Vantari Genetics RCV000210798 SCV000267057 pathogenic Hereditary cancer-predisposing syndrome 2015-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000481066 SCV000565244 uncertain significance not provided 2017-03-23 criteria provided, single submitter clinical testing The R293X variant in the MSR1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant has been reported previously in several individuals with a diagnosis of Barrett's esophagus and/or esophageal adenocarcinoma (Orloff et al., 2011); however, specific phenotypic details and familial segregation information were not provided. The R293X variant has also been reported previously in association with prostate cancer in multiple individuals with and without a family history of prostate cancer, although segregation of R293X with cancer was incomplete in several families (Xu et al., 2002; Gonzalez-Garay et al., 2013). In addition, a study assessing the frequency of MSR1 variants in individuals with prostate cancer identified R293X in equal frequency among both familial and sporadic prostate cancer cohorts as well as an equal frequency among healthy controls (Maier et al., 2006). The R293X variant is observed in 890/119706 (0.01%%) alleles in the ExAC dataset, including 13 homozygotes (Lek et al., 2016). We interpret R293X as a variant of uncertain significance.
Invitae RCV000481066 SCV001097461 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000015431 SCV001137589 uncertain significance Malignant tumor of prostate 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000015431 SCV000035696 uncertain significance Malignant tumor of prostate 2011-07-27 no assertion criteria provided literature only

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