Submissions for variant NM_015340.4(LARS2):c.457A>C (p.Asn153His)

dbSNP: rs786205560

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000171359	SCV000221556	likely pathogenic	not provided		criteria provided, single submitter	research
Center of Genomic medicine, Geneva, University Hospital of Geneva	RCV000857233	SCV000999820	likely pathogenic	Perrault syndrome	2018-08-06	criteria provided, single submitter	clinical testing	This variant was identified in combination with a second variant in trans in the same gene (LARS2) in a patient with Perrault syndrome
King Laboratory, University of Washington	RCV001727613	SCV001976372	likely pathogenic	Perrault syndrome 4	2020-08-01	criteria provided, single submitter	research	LARS2 c.457A>C, p.N153H alters a residue of LARS2 completely conserved in all sequenced vertebrates. The variant is homozygous in 8 children from 4 Palestinian families with ovarian dysgenesis in females and hearing loss and progressive neurological problems in both sexes (Abu Rayyan 2020). It is present in 1 of 1300 Palestinian controls, as a heterozygote, and is absent from public databases. It has been reported previously on ClinVar in subjects of Arab ancestry.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV001727613	SCV005016609	pathogenic	Perrault syndrome 4	2024-03-14	criteria provided, single submitter	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000723297	SCV000854687	uncertain significance	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	2018-05-23	no assertion criteria provided	clinical testing