ClinVar Miner

Submissions for variant NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)

gnomAD frequency: 0.00002  dbSNP: rs141097216
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001760324 SCV001989527 uncertain significance not provided 2019-08-21 criteria provided, single submitter clinical testing Identified with a second variant in trans in siblings with Perrault syndrome in published literature (Kosaki et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29205794, 32369273)
OMIM RCV001283751 SCV001469097 pathogenic Perrault syndrome 4 2021-01-15 no assertion criteria provided literature only
GeneReviews RCV002537926 SCV003525955 not provided Perrault syndrome no assertion provided literature only

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