ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1279_1281del (p.Lys427del)

dbSNP: rs1554098307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539825 SCV000628144 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-12 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 9 of the RAD50 mRNA (c.1279_1281delAAA). This leads to the deletion of 1 amino acid residue in the RAD50 protein (p.Lys427del) but otherwise preserves the integrity of the reading frame. In summary, this variant is a novel in-frame change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD50-related disease.

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