ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.284_287del (p.Ile95fs)

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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 RCV003340701 SCV004047354 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C criteria provided, single submitter clinical testing The frame shift c.284_287del (p.Ile95ThrfsTer16) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has not been reported to the ClinVar database. The p.Ile95ThrfsTer16 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Isoleucine 95, changes this amino acid to Threonine residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ile95ThrfsTer16. 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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