ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)

dbSNP: rs761071115
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000585698 SCV000693460 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 2017-08-07 criteria provided, single submitter clinical testing This homozygous non-sense variant in the LARGE1 gene was identified in two consecutive fetuses with hydrocephaly. Both parents are heterozygous carrier of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005091527 SCV005779157 pathogenic Muscular dystrophy-dystroglycanopathy type B6 2024-06-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg95*) in the LARGE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LARGE1 are known to be pathogenic (PMID: 12966029, 17878207). This variant is present in population databases (rs761071115, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LARGE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 495057). For these reasons, this variant has been classified as Pathogenic.

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