ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)

dbSNP: rs1758380241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001351385 SCV001545849 uncertain significance Usher syndrome type 3B 2020-03-14 criteria provided, single submitter clinical testing 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"). 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 glutamic acid with lysine at codon 387 of the HARS protein (p.Glu387Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
GeneDx RCV002282526 SCV002571438 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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