Submissions for variant NM_003924.4(PHOX2B):c.726A>G (p.Ala242=)

gnomAD frequency: 0.00466  dbSNP: rs757355779

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000223020	SCV000270732	likely benign	not specified	2016-02-15	criteria provided, single submitter	clinical testing	p.Ala242Ala in exon 3 of PHOX2B: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1/214 European ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs757355779).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001290026	SCV000288026	benign	Haddad syndrome	2024-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000223020	SCV000309888	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329704	SCV000449539	likely benign	Neuroblastoma, susceptibility to, 2	2018-03-08	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000234694	SCV000449540	likely benign	Congenital central hypoventilation	2018-03-08	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics	RCV000567279	SCV000674206	benign	Hereditary cancer-predisposing syndrome	2016-12-01	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Eurofins Ntd Llc (ga)	RCV000223020	SCV000859726	likely benign	not specified	2018-02-23	criteria provided, single submitter	clinical testing
GeneDx	RCV001706237	SCV001900389	benign	not provided	2020-03-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16830328)