ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3307A>C (p.Lys1103Gln)

dbSNP: rs749409055
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309152 SCV001498641 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-24 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RAD50-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces lysine with glutamine at codon 1103 of the RAD50 protein (p.Lys1103Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. 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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