ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.598C>G (p.Leu200Val)

gnomAD frequency: 0.00003  dbSNP: rs397515410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002468984 SCV002765531 likely pathogenic not provided 2018-01-26 criteria provided, single submitter clinical testing Published functional studies demonstrate aberrant splicing and reduced enzymatic activity (Pierce et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 517579, 27650058, 31589614, 34406847, 31827252, 31449985, 21464306)
OMIM RCV000032820 SCV000056588 pathogenic Perrault syndrome 2 2011-04-19 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000032820 SCV000243998 likely pathogenic Perrault syndrome 2 2013-06-27 no assertion criteria provided literature only
GeneReviews RCV002513308 SCV003525970 not provided Perrault syndrome no assertion provided literature only Created an alternate splice site leading to deletion of 12 codons.

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