ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1052G>T (p.Gly351Val) (rs747560224)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544188 SCV000628133 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 351 of the RAD50 protein (p.Gly351Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant also falls at the first nucleotide of exon 8 of the RAD50 coding sequence. This variant is present in population databases (rs747560224, ExAC 0.02%). This variant has not been reported in the literature in individuals with a RAD50-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on RAD50 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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