ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.965del (p.Leu322fs)

gnomAD frequency: 0.00001  dbSNP: rs774824253
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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 RCV002237444 SCV002507996 uncertain significance Usher syndrome type 3B 2024-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu322Argfs*13) 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 (rs774824253, gnomAD 0.004%). 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: 1680313). 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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