Submissions for variant NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)

gnomAD frequency: 0.00014  dbSNP: rs587781246

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000213596	SCV000279258	benign	not specified	2018-02-19	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	RCV000551749	SCV000658919	likely benign	Charcot-Marie-Tooth Neuropathy X	2024-12-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002362778	SCV002667032	likely benign	Inborn genetic diseases	2020-05-27	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002483279	SCV002804179	likely benign	Charcot-Marie-Tooth disease X-linked dominant 1	2022-04-12	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV004998292	SCV005622147	uncertain significance	not provided	2024-06-13	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene. (http://gnomad.broadinstitute.org) This variant appears to be associated with disease in at least one family, however, the available information does not rule out an apparent association due to chance. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 26542351)
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust	RCV000144863	SCV000172134	pathogenic	Charcot-Marie-Tooth disease	2013-11-01	no assertion criteria provided	research	pathogenic in males not in females
Natera, Inc.	RCV000144863	SCV002087253	likely benign	Charcot-Marie-Tooth disease	2020-01-22	no assertion criteria provided	clinical testing