ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.631-3C>T

dbSNP: rs533067917
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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 RCV002237457 SCV002507950 uncertain significance Usher syndrome type 3B 2021-08-05 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with HARS-related conditions. This variant is present in population databases (rs533067917, ExAC 0.009%). This sequence change falls in intron 6 of the HARS gene. It does not directly change the encoded amino acid sequence of the HARS protein. It affects a nucleotide within the consensus splice site of the intron.

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