ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.223_225del (p.Lys75del)

dbSNP: rs1185763867
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237483 SCV002508105 uncertain significance Usher syndrome type 3B 2021-08-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with HARS-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.223_225del, results in the deletion of 1 amino acid(s) of the HARS protein (p.Lys75del), but otherwise preserves the integrity of the reading frame.

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