ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.90+1G>C (rs1554109203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000659027 SCV000780831 likely pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660455 SCV000782548 likely pathogenic Usher syndrome, type 3B; Charcot-Marie-Tooth disease, axonal, type 2w 2016-12-15 criteria provided, single submitter clinical testing
Invitae RCV000807497 SCV000947553 uncertain significance Usher syndrome, type 3B 2018-08-20 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the HARS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with HARS-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HARS cause disease. 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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