ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr)

dbSNP: rs1758384765
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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 RCV002237438 SCV002507919 uncertain significance Usher syndrome type 3B 2021-04-10 criteria provided, single submitter clinical testing 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"). 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. This variant has not been reported in the literature in individuals with HARS-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 379 of the HARS protein (p.Cys379Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine.
Revvity Omics, Revvity RCV003134400 SCV003810652 uncertain significance not provided 2022-09-28 criteria provided, single submitter clinical testing

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