ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1227_1238del (p.Gly410_Gln413del) (rs1573485191)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794839 SCV000934271 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-08-25 criteria provided, single submitter clinical testing This variant, c.1227_1238delGGGTATAAATCA, results in the deletion of 4 amino acid(s) of the MSH2 protein (p.Gly410_Gln413del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. 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.
Ambry Genetics RCV001010432 SCV001170631 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-15 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Moderate segregation with disease (at least 3 informative meioses) for rare diseases.;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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