ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.413G>A (p.Arg138His)

gnomAD frequency: 0.00001  dbSNP: rs1432653451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003413579 SCV004114121 uncertain significance HARS2-related disorder 2023-01-12 criteria provided, single submitter clinical testing The HARS2 c.413G>A variant is predicted to result in the amino acid substitution p.Arg138His. This variant was reported in the compound heterozygous state in a patient with sensorineural hearing loss (Demain et al. 2020. PubMed ID: 31827252). This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-140075106-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Dept. of Evolution and Genomic Sciences, University of Manchester RCV000853540 SCV000924705 likely pathogenic Sensorineural hearing loss disorder 2019-01-17 no assertion criteria provided clinical testing Likely pathogenic variant in a known hearing loss gene. Seen in one individual with hearing loss as a compund heterozygous variant in trans to another likely pathogenic variant. Highly conserved residue and part of a salt bridge required for active site formation.

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