ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)

gnomAD frequency: 0.00003  dbSNP: rs376296747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001862654 SCV002227346 uncertain significance not provided 2022-09-28 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 869196). This missense change has been observed in individual(s) with Perrault syndrome (PMID: 32399598). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs376296747, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 413 of the LARS2 protein (p.Glu413Lys).
Fulgent Genetics, Fulgent Genetics RCV002482158 SCV002793692 uncertain significance Perrault syndrome 4; Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 2021-07-14 criteria provided, single submitter clinical testing
Reproductive Development, Murdoch Childrens Research Institute RCV001201400 SCV001244305 likely pathogenic Perrault syndrome 4 2019-10-21 no assertion criteria provided research

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