ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)

dbSNP: rs1563090141
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762485 SCV000892809 likely pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001855956 SCV002187332 likely pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 843 of the CLCN1 protein (p.Leu843Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant myotonia congenita (PMID: 27300293; Invitae). ClinVar contains an entry for this variant (Variation ID: 624305). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CLCN1 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV003319419 SCV004023401 likely pathogenic Tip-toe gait 2021-10-08 no assertion criteria provided clinical testing

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