ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1316C>T (p.Pro439Leu) (rs771789692)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571303 SCV000669865 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000571303 SCV000684926 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780452 SCV000917708 uncertain significance not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The MSH2 c.1316C>T (p.Pro439Leu) variant involves the alteration of a conserved nucleotide located in the DNA mismatch repair protein MutS, core (InterPro). 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 1/245806 control chromosomes at a frequency of 0.0000041, which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH2 variant (0.0005683). The variant was found in a DLBCL sample, though it was unknown whether it was germline or somatic in origin (de Miranda_2013). In addition, one clinical diagnostic laboratory classified this variant as one of uncertain significance. Taken together, this variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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