ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1914_1916CTT[1] (p.Phe639del) (rs758193305)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000709806 SCV000840134 not provided Endometrial carcinoma; Familial adenomatous polyposis 4 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000797172 SCV000936717 uncertain significance not provided 2018-11-15 criteria provided, single submitter clinical testing This variant, c.1917_1919delCTT, results in the deletion of 1 amino acid(s) of the MSH3 protein (p.Phe639del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs758193305, ExAC 0.01%). This variant has not been reported in the literature in individuals with MSH3-related disease. ClinVar contains an entry for this variant (Variation ID: 585053). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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