Submissions for variant NM_000083.3(CLCN1):c.2785A>T (p.Thr929Ser)

gnomAD frequency: 0.00034  dbSNP: rs143075418

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001040990	SCV001204584	likely benign	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2024-01-16	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV003145268	SCV003830752	uncertain significance	not provided	2019-03-08	criteria provided, single submitter	clinical testing
GeneDx	RCV003145268	SCV004031817	uncertain significance	not provided	2023-07-18	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV004031234	SCV004928049	uncertain significance	Inborn genetic diseases	2023-12-13	criteria provided, single submitter	clinical testing	The c.2785A>T (p.T929S) alteration is located in exon 23 (coding exon 23) of the CLCN1 gene. This alteration results from a A to T substitution at nucleotide position 2785, causing the threonine (T) at amino acid position 929 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.