ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.123A>T (p.Gly41=) (rs754054728)

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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 RCV000195527 SCV000671857 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000195527 SCV000254875 uncertain significance Hereditary cancer-predisposing syndrome 2015-04-16 criteria provided, single submitter clinical testing This sequence change affects codon 41 of the RAD50 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RAD50 protein. This variant has not been published in the literature and is present in population databases (noRSID, 0.001%). Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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