ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.1907C>A (p.Thr636Asn)

dbSNP: rs1803111177
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338762 SCV001532456 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-04-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 1035837). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 636 of the CLCN1 protein (p.Thr636Asn).
Revvity Omics, Revvity RCV003145582 SCV003830703 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004609779 SCV005103609 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.1907C>A (p.T636N) alteration is located in exon 16 (coding exon 16) of the CLCN1 gene. This alteration results from a C to A substitution at nucleotide position 1907, causing the threonine (T) at amino acid position 636 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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