ClinVar Miner

Submissions for variant NM_012208.4(HARS2):c.475C>T (p.Arg159Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002631437 SCV002964120 pathogenic not provided 2024-05-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg159*) in the HARS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HARS2 are known to be pathogenic (PMID: 31827252). This variant is present in population databases (rs376181876, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with HARS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1931186). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Genetics Department, Hospital Ramon y Cajal-IRYCIS RCV004808536 SCV005061479 pathogenic Perrault syndrome 2 2024-06-14 criteria provided, single submitter research Found in trans with NM_012208.4:c.1439G>A

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