ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.2T>C (p.Met1Thr)

dbSNP: rs1759420438
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214963 SCV001386674 uncertain significance Usher syndrome type 3B 2019-07-07 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HARS mRNA. The next in-frame methionine is located at codon 70. 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 variant has not been reported in the literature in individuals with HARS-related conditions. This variant is not present in population databases (ExAC no frequency).

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