ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) (rs367925756)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164991 SCV000215685 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000164991 SCV000262064 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-28 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 683 of the RAD50 protein (p.Val683Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs367925756, ExAC 0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 24894818). ClinVar contains an entry for this variant (Variation ID: 185548). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Fulgent Genetics,Fulgent Genetics RCV000764583 SCV000895674 uncertain significance Nijmegen breakage syndrome-like disorder 2018-10-31 criteria provided, single submitter clinical testing

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