ClinVar Miner

Submissions for variant NM_015665.6(AAAS):c.479A>G (p.His160Arg)

dbSNP: rs1297831120
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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 RCV003557744 SCV004294196 pathogenic not provided 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 160 of the AAAS protein (p.His160Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with triple A syndrome (PMID: 11159947, 20499090, 21445602). 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 AAAS protein function. Experimental studies have shown that this missense change affects AAAS function (PMID: 15666842, 16609705). For these reasons, this variant has been classified as Pathogenic.

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