ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2705A>C (p.Tyr902Ser) (rs876659612)

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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 RCV000230454 SCV000276271 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,in silico models in agreement (benign),Insufficient or Conflicting Evidence,Rarity in general population databases (dbSNP, ESP, 1000 Genomes)
Invitae RCV000230454 SCV000289041 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-16 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 902 of the RAD50 protein (p.Tyr902Ser). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 232201). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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