ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1760T>G (p.Ile587Ser)

gnomAD frequency: 0.00001  dbSNP: rs769527393
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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 RCV000571841 SCV000674636 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-04 criteria provided, single submitter clinical testing The p.I587S variant (also known as c.1760T>G), located in coding exon 11 of the RAD50 gene, results from a T to G substitution at nucleotide position 1760. The isoleucine at codon 587 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000571841 SCV000828452 uncertain significance Hereditary cancer-predisposing syndrome 2020-06-03 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAD50-related disease. ClinVar contains an entry for this variant (Variation ID: 486237). This variant is present in population databases (rs769527393, ExAC 0.01%). This sequence change replaces isoleucine with serine at codon 587 of the RAD50 protein (p.Ile587Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine.

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