Submissions for variant NM_000083.3(CLCN1):c.2258A>C (p.Gln753Pro)

gnomAD frequency: 0.00010  dbSNP: rs112282456

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000638245	SCV000759731	likely benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2023-12-30	criteria provided, single submitter	clinical testing
Genetics and Molecular Pathology, SA Pathology	RCV002272312	SCV002556681	uncertain significance	Congenital myotonia, autosomal dominant form	2019-07-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002529875	SCV003666569	uncertain significance	Inborn genetic diseases	2022-12-14	criteria provided, single submitter	clinical testing	The c.2258A>C (p.Q753P) alteration is located in exon 18 (coding exon 18) of the CLCN1 gene. This alteration results from a A to C substitution at nucleotide position 2258, causing the glutamine (Q) at amino acid position 753 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV003488748	SCV004235325	uncertain significance	not provided	2023-02-14	criteria provided, single submitter	clinical testing
GenomeConnect - Invitae Patient Insights Network	RCV000638245	SCV001749473	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.