ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.483del (p.Phe162fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003447889 SCV004175820 likely pathogenic Muscular dystrophy-dystroglycanopathy type B6 2023-02-14 criteria provided, single submitter clinical testing The frameshift c.483del (p.Phe162SerfsTer61) variant in LARGE1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Phe162SerfsTer61 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Phenylalanine 162, changes this amino acid to Serine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Phe162SerfsTer61. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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