ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys)

dbSNP: rs1554106881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002527442 SCV003439238 uncertain significance Usher syndrome type 3B 2022-03-14 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects HARS function (PMID: 29235198, 32543048). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 446300). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 26752306, 29235198). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 330 of the HARS protein (p.Tyr330Cys).
Antonellis Laboratory at Michigan, University of Michigan RCV000515533 SCV000611613 uncertain significance Autosomal dominant Charcot-Marie-Tooth disease type 2W no assertion criteria provided in vitro

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