ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: 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 2023-09-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 647434). 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. 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. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS cause disease. This variant is present in population databases (rs201011416, gnomAD 0.02%).

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