Submissions for variant NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe)

gnomAD frequency: 0.00160  dbSNP: rs145433186

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224861	SCV000280722	uncertain significance	not provided	2016-01-27	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000224861	SCV000336881	uncertain significance	not provided	2015-11-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000509333	SCV000895435	uncertain significance	Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome	2018-10-31	criteria provided, single submitter	clinical testing
Invitae	RCV000224861	SCV001016025	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141631	SCV001301990	uncertain significance	Autosomal recessive multiple pterygium syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV001141632	SCV001301991	uncertain significance	Lethal multiple pterygium syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000224861	SCV001796444	likely benign	not provided	2020-12-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947733	SCV004764045	likely benign	CHRNG-related condition	2022-08-25	criteria provided, single submitter	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).
GenomeConnect, ClinGen	RCV000509333	SCV000607091	not provided	Autosomal recessive multiple pterygium syndrome; Lethal multiple pterygium syndrome		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.