ClinVar Miner

Submissions for variant NM_001958.3(EEF1A2):c.1375_1383delCAGAAGGCG (p.Gln459_Ala461del) (rs879255373)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239113 SCV000297111 uncertain significance not specified 2015-11-19 criteria provided, single submitter clinical testing
GeneDx RCV000487209 SCV000569803 likely pathogenic not provided 2017-04-18 criteria provided, single submitter clinical testing A c.1375_1383delCAGAAGGCG variant that is likely pathogenic has been identified in the EEF1A2 gene. The c.1375_1383delCAGAAGGCG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 5,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.1375_1383delCAGAAGGCG variant results in an in-frame deletion of three amino acids, denoted p.Gln459_Ala461del. This deletion occurs at a position that is conserved in mammals. However, the c.1375_1383delCAGAAGGCG variant is not predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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