ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.180G>A (p.Lys60=)

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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 RCV002866997 SCV003235170 uncertain significance Usher syndrome type 3B 2022-08-31 criteria provided, single submitter clinical testing Variants that disrupt 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 disrupt the consensus splice site. 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 affected with HARS-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 60 of the HARS mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HARS protein. This variant also falls at the last nucleotide of exon 2, which is part of the consensus splice site for this exon.

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