Submissions for variant NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg)

dbSNP: rs146921234

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000521665	SCV000618221	uncertain significance	not provided	2017-06-30	criteria provided, single submitter	clinical testing	The S391R variant in the CHRNE gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is observed in 8/51,000 (0.02%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The S391R variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S391R as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002060269	SCV002367909	likely benign	Congenital myasthenic syndrome 4A	2023-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002525133	SCV003580082	uncertain significance	Inborn genetic diseases	2021-10-21	criteria provided, single submitter	clinical testing	The c.1173C>A (p.S391R) alteration is located in exon 10 (coding exon 10) of the CHRNE gene. This alteration results from a C to A substitution at nucleotide position 1173, causing the serine (S) at amino acid position 391 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV000521665	SCV003830635	uncertain significance	not provided	2022-03-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274710	SCV001459090	uncertain significance	Congenital myasthenic syndrome	2019-10-28	no assertion criteria provided	clinical testing