ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)

gnomAD frequency: 0.44456  dbSNP: rs2272251
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283505 SCV000467125 benign Batten-Turner congenital myopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520612 SCV001729752 benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579217 SCV001806670 benign Congenital myotonia, autosomal dominant form 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579218 SCV001806671 benign Congenital myotonia, autosomal recessive form 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001594993 SCV001829210 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences RCV001520612 SCV005038724 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form criteria provided, single submitter research The c.2154C>T (p.(Asp718=)) variant was found in 25 Slovak patients with Myotonia congenita, in 8 and 17 of them in homozygous and heterozygous states, respectively. It is a silent variant, predicted to be benign by multiple in silico algorithms, and/or has a population frequency not consistent with the disease (gnomAD ExomesVersion: 4.0 frequency f = 0.454).
Breakthrough Genomics, Breakthrough Genomics RCV001594993 SCV005272711 benign not provided criteria provided, single submitter not provided

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