ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser)

gnomAD frequency: 0.00001  dbSNP: rs1297285666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266442 SCV002548454 uncertain significance not specified 2022-05-12 criteria provided, single submitter clinical testing Variant summary: RERE c.2557G>A (p.Gly853Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.7e-05 in 59262 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2557G>A in individuals affected with Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
New York Genome Center RCV002266443 SCV002549027 uncertain significance Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 2021-07-01 criteria provided, single submitter clinical testing The inherited c.2557G>A, p.Gly853Ser variant identified in the RERE gene has not been reported in the literature in individuals with RERE-related conditions. This variant has one heterozygous allele in gnomAD v3.1.1 suggesting it is not a common benign variant in the populations represented in this database. In silico algorithms predict a conflicting interpretation of pathogenicity. Given the lack of compelling evidence for its pathogenicity, the c.2557G>A, p.Gly853Ser variant identified in the RERE gene is reported as a Variant of Uncertain Significance.

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