ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.95C>A (p.Thr32Lys)

dbSNP: rs1580974498
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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 RCV001019541 SCV001180912 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-07 criteria provided, single submitter clinical testing The p.T32K variant (also known as c.95C>A), located in coding exon 1 of the RAD50 gene, results from a C to A substitution at nucleotide position 95. The threonine at codon 32 is replaced by lysine, an amino acid with similar 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 RCV001019541 SCV001537562 uncertain significance Hereditary cancer-predisposing syndrome 2020-08-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 32 of the RAD50 protein (p.Thr32Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 823361). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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