ClinVar Miner

Submissions for variant NM_000975.5(RPL11):c.396+9A>G

gnomAD frequency: 0.00058  dbSNP: rs201786327
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861227 SCV001001484 benign Diamond-Blackfan anemia 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100324 SCV001256838 benign Diamond-Blackfan anemia 7 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV000861227 SCV002621077 uncertain significance Diamond-Blackfan anemia 2014-12-23 criteria provided, single submitter clinical testing The c.396+9A>G intronic variant results from an A to G substitution 9 nucleotides after coding exon 4 in the RPL11 gene. This variant was previously reported in the SNPDatabase as rs201786327. Based on data from the NHLBI Exome Sequencing Project (ESP), the G allele has an overall frequency of approximately 0.08% (10/13006) total alleles studied and 0.12% (10/8600) European American alleles. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this donor splice site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001100324 SCV002809077 likely benign Diamond-Blackfan anemia 7 2021-11-24 criteria provided, single submitter clinical testing

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