ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.597C>G (p.Pro199=) (rs1553411498)

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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 RCV000568470 SCV000662483 likely benign Hereditary cancer-predisposing syndrome 2016-06-14 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 RCV000587750 SCV000695916 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing Variant summary: The c.597C>G (p.Pro199=) in MSH6 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is absent from control population datasets of ExAC and gnomAG (0/121166 and 0/246168 chrs tested, respectively). The variant has not, to our knowledge, been reported in affected individuals via published reports or cited by a reputable database/clinical laboratory. The variant co-occurred with a MSH6 c.4068_4071dupGATT (p.K1358fs*2) in one internal LCA sample. Taking together, the variant was classified as Likely Benign.

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