ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)

gnomAD frequency: 0.00003  dbSNP: rs777214329
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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 RCV001339862 SCV001533638 uncertain significance Usher syndrome type 3B 2023-10-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1036801). This variant has not been reported in the literature in individuals affected with HARS-related conditions. This variant is present in population databases (rs777214329, gnomAD 0.03%). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 314 of the HARS protein (p.Ile314Thr). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt HARS protein function. 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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