ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)

gnomAD frequency: 0.00001  dbSNP: rs774649299
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris RCV000496181 SCV000586755 pathogenic Perrault syndrome 4 2017-01-06 criteria provided, single submitter clinical testing
GeneDx RCV003441896 SCV004170496 likely pathogenic not provided 2023-04-21 criteria provided, single submitter clinical testing Published functional studies suggest this variant is associated with reduced mitochondrial leucyl-tRNA synthase activity (van der Knaap MS et al., 2019); 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; This variant is associated with the following publications: (PMID: 31589614, 30737337, 28708303, 32399598)
Reproductive Development, Murdoch Childrens Research Institute RCV000496181 SCV001244306 pathogenic Perrault syndrome 4 2019-10-21 no assertion criteria provided research
OMIM RCV000496181 SCV001469098 pathogenic Perrault syndrome 4 2021-01-15 no assertion criteria provided literature only

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