ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1112G>T (p.Cys371Phe)

dbSNP: rs1555787599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Dr Salvatore DiMauro, H. Houston Merritt Clinical Research Center., Columbia University Medical Center RCV000590988 SCV000564399 pathogenic Glycogen storage disease, type IV; Polyglucosan body myopathy type 1 2016-03-03 criteria provided, single submitter clinical testing p.Cys371Phe substitution changes a very conserved motif in the RBCK1 protein. Conservation of the locus and parents being heterozygous strongly suggest the pathogenicity of this mutation. PolyPhen and Swift databases also suggest pathogenic feature of this amino acid change.
GeneDx RCV005222972 SCV005870368 uncertain significance not provided 2024-08-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Akman2017[Case Report])

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