ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.205C>T (p.Gln69Ter)

dbSNP: rs906500515
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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 RCV002237485 SCV002507988 uncertain significance Usher syndrome type 3B 2022-06-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln69*) in the HARS gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS cause disease. This variant has not been reported in the literature in individuals affected with HARS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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