Submissions for variant NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)

gnomAD frequency: 0.00230  dbSNP: rs76466003

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000009304	SCV000457483	likely benign	Hirschsprung disease, susceptibility to, 3	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000252402	SCV000730622	likely benign	not specified	2017-09-19	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.
Mendelics	RCV000009304	SCV001136829	benign	Hirschsprung disease, susceptibility to, 3	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054428	SCV002405997	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000009304	SCV002802953	likely benign	Hirschsprung disease, susceptibility to, 3	2022-04-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054428	SCV005040974	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	GDNF: BP4
OMIM	RCV000009304	SCV000029522	risk factor	Hirschsprung disease, susceptibility to, 3	1997-07-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004755725	SCV000306981	likely benign	GDNF-related disorder	2024-07-31	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).