ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.2213G>A (p.Ser738Asn)

dbSNP: rs587780152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115938 SCV000149847 uncertain significance not provided 2013-12-27 criteria provided, single submitter clinical testing NULL The variant is found in BR-OV-HEREDIC panel(s).
Ambry Genetics RCV000566515 SCV000663621 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing The p.S738N variant (also known as c.2213G>A), located in coding exon 14 of the RAD50 gene, results from a G to A substitution at nucleotide position 2213. The serine at codon 738 is replaced by asparagine, 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.
Invitae RCV000566515 SCV001382258 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-07 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) performed at Invitae indicates that this missense variant is not 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. ClinVar contains an entry for this variant (Variation ID: 128002). 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 asparagine, which is neutral and polar, at codon 738 of the RAD50 protein (p.Ser738Asn).

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