ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) (rs201011416)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801945 SCV000941750 uncertain significance Usher syndrome, type 3B 2018-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln410*) in the HARS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs201011416, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with HARS-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS cause disease. 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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