ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2313A>C (p.Gln771His)

dbSNP: rs768803229
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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 RCV000565830 SCV000663724 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-18 criteria provided, single submitter clinical testing The p.Q771H variant (also known as c.2313A>C), located in coding exon 14 of the RAD50 gene, results from an A to C substitution at nucleotide position 2313. The glutamine at codon 771 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000565830 SCV000825224 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-25 criteria provided, single submitter clinical testing 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAD50 protein function. 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. ClinVar contains an entry for this variant (Variation ID: 480467). 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 glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 771 of the RAD50 protein (p.Gln771His).

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