ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)

gnomAD frequency: 0.00013  dbSNP: rs138377835
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001343274 SCV001537244 uncertain significance Usher syndrome type 3B 2023-10-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 495 of the HARS protein (p.Val495Ala). This variant is present in population databases (rs138377835, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with HARS-related conditions. ClinVar contains an entry for this variant (Variation ID: 1039735). 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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