ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1867T>C (p.Ser623Pro)

dbSNP: rs1554098592
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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 RCV000575823 SCV000667095 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-28 criteria provided, single submitter clinical testing The p.S623P variant (also known as c.1867T>C), located in coding exon 12 of the RAD50 gene, results from a T to C substitution at nucleotide position 1867. The serine at codon 623 is replaced by proline, an amino acid with 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.
Invitae RCV000575823 SCV001200545 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 482156). 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 serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 623 of the RAD50 protein (p.Ser623Pro). 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 expected to disrupt 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.

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