ClinVar Miner

Submissions for variant NM_152617.4(RNF168):c.1019C>T (p.Ser340Leu)

gnomAD frequency: 0.00017  dbSNP: rs187146687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931065 SCV002196587 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 340 of the RNF168 protein (p.Ser340Leu). This variant is present in population databases (rs187146687, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with RNF168-related conditions. ClinVar contains an entry for this variant (Variation ID: 1418915). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003598063 SCV004562299 uncertain significance RIDDLE syndrome 2023-10-31 criteria provided, single submitter clinical testing The RNF168 c.1019C>T; p.Ser340Leu variant (rs187146687), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1418915). This variant is found in the general population with an overall allele frequency of 0.02% (50/282,822 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.117). However, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.
Breakthrough Genomics, Breakthrough Genomics RCV001931065 SCV005189951 uncertain significance not provided criteria provided, single submitter not provided

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