ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.314G>A (p.Arg105His)

gnomAD frequency: 0.00016  dbSNP: rs756353660
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000263405 SCV000467099 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 RCV000536073 SCV000636327 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2025-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001571296 SCV001795737 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001571296 SCV003830724 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022040 SCV004928052 uncertain significance Inborn genetic diseases 2022-04-22 criteria provided, single submitter clinical testing The c.314G>A (p.R105H) alteration is located in exon 3 (coding exon 3) of the CLCN1 gene. This alteration results from a G to A substitution at nucleotide position 314, causing the arginine (R) at amino acid position 105 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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