ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)

gnomAD frequency: 0.00002  dbSNP: rs373709175
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038296 SCV001201761 uncertain significance Usher syndrome type 3B 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg490*) in the HARS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the HARS protein. This variant is not present in population databases (gnomAD no frequency). 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: 837043). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Ambry Genetics RCV003160237 SCV003879765 uncertain significance Inborn genetic diseases 2023-01-07 criteria provided, single submitter clinical testing Loss of function has not been established as a mechanism of disease Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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