ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)

gnomAD frequency: 0.00001  dbSNP: rs1408800953
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001068515 SCV001233631 uncertain significance Usher syndrome type 3B 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 137 of the HARS protein (p.Arg137Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of peripheral neuropathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 861899). 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 expected to disrupt HARS protein function with a positive predictive value of 80%. 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.
Revvity Omics, Revvity RCV003132208 SCV003810651 uncertain significance not provided 2019-05-07 criteria provided, single submitter clinical testing

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