ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.1106C>T (p.Ser369Leu)

dbSNP: rs947142407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207973 SCV001379341 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 369 of the RAD50 protein (p.Ser369Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. 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. 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).
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142137 SCV003807884 uncertain significance Nijmegen breakage syndrome-like disorder 2023-02-12 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting

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