ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.3898G>A (p.Val1300Met)

dbSNP: rs1554101335
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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 RCV000573661 SCV000663671 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-12 criteria provided, single submitter clinical testing The p.V1300M variant (also known as c.3898G>A), located in coding exon 25 of the RAD50 gene, results from a G to A substitution at nucleotide position 3898. The valine at codon 1300 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000573661 SCV001532203 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-02 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. 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. ClinVar contains an entry for this variant (Variation ID: 480431). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 1300 of the RAD50 protein (p.Val1300Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine.
Baylor Genetics RCV003459302 SCV004207384 uncertain significance Nijmegen breakage syndrome-like disorder 2023-06-26 criteria provided, single submitter clinical testing

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