ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) (rs794727969)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180581 SCV000233051 uncertain significance not provided 2014-10-21 criteria provided, single submitter clinical testing
Invitae RCV000810871 SCV000951108 uncertain significance Usher syndrome, type 3B 2018-10-09 criteria provided, single submitter clinical testing This variant, c.911_922delTGCTCTTTGAGT, results in the deletion of 4 amino acids of the HARS protein (p.Leu304_Glu307del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HARS-related disease. ClinVar contains an entry for this variant (Variation ID: 199074). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. 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.

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