ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2796C>T (p.Gly932=) (rs774105284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491235 SCV000580374 likely benign Hereditary cancer-predisposing syndrome 2016-08-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000589204 SCV000695831 uncertain significance not provided 2017-02-14 criteria provided, single submitter clinical testing Variant summary: The MSH6 c.2796C>T (p.Gly932Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide, which 4/5 splice prediction tools indicate no significant impact on normal splicing. ESE finder predicts the creation of ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant has not been observed in controls (ExAC, 1000 Gs, or ESP) and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. An internal LCA sample reports the variant to co-occur with a potentially pathogenic MSH6 variant, c.2983G>T (p.Glu955X). Therefore, this variant is classified as a "Variant of Uncertain Significance (VUS) - Possibly Benign."

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