Submissions for variant NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)

gnomAD frequency: 0.00116  dbSNP: rs55826142

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000384112	SCV000332183	likely benign	not specified	2015-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000384112	SCV000713994	likely benign	not specified	2018-02-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000653223	SCV000775099	likely benign	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001168571	SCV001331174	uncertain significance	Congenital myasthenic syndrome 9	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV003311738	SCV004010850	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	MUSK: BP4
GenomeConnect - Invitae Patient Insights Network	RCV000653223	SCV001749673	not provided	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9		no assertion provided	phenotyping only	Variant interpreted as Likely benign and reported on 03-09-2020 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.
PreventionGenetics, part of Exact Sciences	RCV004542984	SCV004774273	likely benign	MUSK-related disorder	2023-02-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).