ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2693G>A (p.Gly898Glu)

gnomAD frequency: 0.00005  dbSNP: rs149188892
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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 RCV001372906 SCV001569600 likely benign Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550928 SCV003666570 uncertain significance Inborn genetic diseases 2022-12-14 criteria provided, single submitter clinical testing The c.2693G>A (p.G898E) alteration is located in exon 23 (coding exon 23) of the CLCN1 gene. This alteration results from a G to A substitution at nucleotide position 2693, causing the glycine (G) at amino acid position 898 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001372906 SCV001749474 not provided Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-04-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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