ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile)

dbSNP: rs786202509
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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 RCV000165353 SCV000216078 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-08 criteria provided, single submitter clinical testing The p.L378I variant (also known as c.1132C>A), located in coding exon 8 of the RAD50 gene, results from a C to A substitution at nucleotide position 1132. The leucine at codon 378 is replaced by isoleucine, 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 possibly damaging and tolerated by PolyPhen and SIFT in silico analyses, respectively. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000165353 SCV001502749 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 185855). 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 leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 378 of the RAD50 protein (p.Leu378Ile).
Sema4, Sema4 RCV002257468 SCV002538442 uncertain significance Nijmegen breakage syndrome-like disorder 2021-12-22 criteria provided, single submitter curation

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