ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1007C>T (p.Ser336Phe) (rs771068208)

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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 RCV000456277 SCV000667079 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000456277 SCV000547987 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-17 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 336 of the RAD50 protein (p.Ser336Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is present in population databases (rs771068208, ExAC 0.006%). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 408359). 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.

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