ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys)

dbSNP: rs876658686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220305 SCV000274278 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-15 criteria provided, single submitter clinical testing The p.E650K variant (also known as c.1948G>A), located in coding exon 12 of the RAD50 gene, results from a G to A substitution at nucleotide position 1948. The glutamic acid at codon 650 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 RCV000220305 SCV000753357 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-09 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 230653). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 650 of the RAD50 protein (p.Glu650Lys).
Sema4, Sema4 RCV002257521 SCV002538463 uncertain significance Nijmegen breakage syndrome-like disorder 2021-08-04 criteria provided, single submitter curation

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