ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)

gnomAD frequency: 0.98349  dbSNP: rs10282312
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987988 SCV001137530 benign Congenital myotonia, autosomal recessive form 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519256 SCV001728089 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579208 SCV001806660 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000987988 SCV001806661 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001519256 SCV005038734 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form criteria provided, single submitter research Almost all patients from our cohort were homozygous for this variant c.352G>T (p.(Gly118Trp)), indicating that T represents a wild-type allele. We identified only one patient homozygous for allele G, who, however, was homozygous also for the Likely Pathogenic variant c.959A>C (p.(Ala320Val)). Only according to the publication PMID: 23152584, c.352G>T variant can have a weak effect.
Breakthrough Genomics, Breakthrough Genomics RCV004712951 SCV005270762 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528988 SCV001741680 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528988 SCV001930344 benign not specified no assertion criteria provided clinical testing

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